16 Matching Annotations
  1. Last 7 days
    1. 171Yes101015b––Partial deletion–Rearrangement–

      GroupID: None

      KindredID: 17

      DiseaseAssertion: VHL

      GroupSize: 10

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: American Admixed /Latino

      GroupAgeRange: N/A

      GroupInfo: 10 members of a South American family expressed this c.183C>G mutation.

      GroupPresentingHPOs: HP:0010797, HP:0009711, HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

      GroupHPOFreeText: All 10 family members had a central nervous system hemangioblastoma. One also had a retinal angioma. Five had renal carcinoma. One patient per family with renal tumour <3 cm under follow up detected by imaging.

      GroupNotHPOs: HP:0002894, HP:0002666 (neoplasm of the pancreas, pheochromocytoma )

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: P61= (183C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 135951 https://www.ncbi.nlm.nih.gov/clinvar/variation/135951/

      CAID: N/A

      gnomAD: 0.0009632 https://gnomad.broadinstitute.org/variant/3-10183714-C-G

      VariantEvidence: N/A

      MutationType: synonymous_variant

      CivicName: P61=(c.183C>G)

      MultipleGeneVariants: Germline, VHL, Partial Deletion

  2. Oct 2026
    1. GroupID: None

      KindredID: 16

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: American Admixed /Latino

      GroupAgeRange: N/A

      GroupInfo: Four members of a South American family expressed this 462-95T>A mutation.

      GroupPresentingHPOs: HP:0010797, HP:0002666 (hemangioblastoma,pheochromocytoma)

      GroupHPOFreeText:Two family members had hemangioblastoma of the central nervous system. Three had pheochromocytoma.

      GroupNotHPOs: HP:0002894, HP:0009711, HP:0005584 (neoplasm of the pancreas, retinal capillary hemangioma, renal cell carcinoma )

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.464-94T>A

      LegacyVariant: IVS2-95T>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1201249 https://www.ncbi.nlm.nih.gov/clinvar/variation/1201249/?oq=1201249&m=NM_000551.4(VHL):c.464-94T%3EA

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: intron_variant

      CivicName: R167Q(c.500G>A) and c.464-94T>A

      MultipleGeneVariants: Germline, VHL, c.500G>A (Arg167Glu)

    2. 91Yes3111––344 del A2Frameshift at aa 115hFrameshiftNovel

      GroupID: None

      KindredID:9

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: American Admixed/Latino

      GroupAgeRange: N/A

      GroupInfo: Three members of a South American family expressed this c.344delA mutation.

      GroupPresentingHPOs: HP:0010797, HP:0009711, HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

      GroupHPOFreeText: N/A

      GroupNotHPOs: HP:0002894, HP:0002666 (neoplasm of the pancreas, pheochromocytoma )

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.H115Pfs*44 (c.344delA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID:N/A

      CAID: CA70049370 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.344delA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: H115Pfs*44(c.344delA) and P61=(c.183C>G)

      MultipleGeneVariants: Germline, VHL,c.c.183C>G (p.Pro61Pro)

    3. GroupID: None

      KindredID: 17

      DiseaseAssertion: VHL

      GroupSize: 10

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: American Admixed /Latino

      GroupAgeRange: N/A

      GroupInfo: 10 members of a South American family expressed this mutation.

      GroupPresentingHPOs: HP:0010797, HP:0009711, HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

      GroupHPOFreeText: All 10 family members had a central nervous system hemangioblastoma. One also had a retinal angioma. Five had renal carcinoma. One patient per family with renal tumour <3 cm under follow up detected by imaging.

      GroupNotHPOs: HP:0002894, HP:0002666 (neoplasm of the pancreas, pheochromocytoma )

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Partial Deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: Deletion

      CivicName: Partial Deletion and P61=( c.183C>G)

      MultipleGeneVariants: Germline, VHL, c.183C>G (Pro61Pro)

  3. Jan 2024
  4. May 2021
  5. Oct 2020
  6. Aug 2020
  7. Feb 2020
  8. Apr 2019
    1. Washington state Attorney General Bob Ferguson said Thursday that Motel 6 shared the information of about 80,000 guests in the state from 2015 to 2017. That led to targeted investigations of guests with Latino-sounding names, according to Ferguson. He said many guests faced questioning from ICE, detainment or deportation as a result of the disclosures. It's the second settlement over the company's practice in recent months.

      If you stay at Motel 6, prepare to have your latino-tinged data handed over to the authorities who are looking to harm you permanently.

  9. Sep 2016
    1. Many Latinos argue that the country’s race categories — indeed, the government’s very conception of identity — do not fit them.

      Some Latino people think that the country's race categories are not an accurate depiction of what they identify with. This could be seen as extremely racist.

  10. Oct 2015
    1. We were walking along Washington Avenue, the main street that runs through the town, past the Town Hall that looks like a castle, and the duck pond. I don’t remember what we were talking about or if we were even talking, but I remember his face, bloated and red and angry. He stuck that face out of the truck that slowed down as it passed, then he threw a lit cigarette at us, two teenage girls – her 16, me 13 – and said, “Go home, n*ggers.” We jumped away to avoid getting burnt and stared at the truck as it sped off. She started crying, a quiet, blubbering cry that shook her shoulders. I stayed quiet the rest of the walk home. The following year, a black girl who was all of a shade darker than me told me I didn’t know prejudice – “because you’re not black.” She pursed her lips and shook her head. I thought back to that lit cigarette and that bloated, red face.

      A woman sharing the complexity of her identity as a black latina. Being seen as a "n*gger" by white people, yet not being accepted as black by African Americans, while at the same time her latino family refuses to acknowledge her blackness because of their negative perceptions on blacks.