Table S2. ABCA4 variant categorization:
This variant was not evaluated.
9 Matching Annotations
- Last 7 days
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
-
Table S2. ABCA4 variant categorization:
This variant was not evaluated.
-
Table S2. ABCA4 variant categorization:
This variant was not evaluated.
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
5137 Mo 25 3/10 / FC ND / c.32T>C(1) ND/p.Leu11Pro
Case#: Maia-Lopes Family 17 Proband 5137, Portuguese, 25yo at onset
DiseaseAssertion: STGD
FamilyInfo: Family 17
CasePresentingHPOs:
CaseHPOFreeText: moderate central fundus changes, vision: 3/10 / FC
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: ABCR400 microarray, dHPLC
PreviouslyPublished: n/a
Variant: ND / c.32T>C(1); ND/p.Leu11Pro
ClinVar: 99217
CAID: CA227106
SupplementalData: n/a
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele
PMID: 16917483
Gene: ABCA4
Disease: Stargardt
This paper was referenced by PMID: 23755871 as containing variant c.6410G>A (p.Cys2137Tyr), but this variant foes not appear to be in the text or tables
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Screening of reported pathogenic variants in ABCA4 for Stargardt (STGD) The disease prevalence of STGD is estimated as 1 in 10000 individuals4. It has been estimated that about 70% of STGD patients carry variants in ABCA45. Therefore, this represents the scenario of a recessive disease with a relatively homogeneous genetic cause. We screened 945 reported pathogenic variants in ABCA4 genes collected in HGMD. Among them, 11 variants are likely benign, as their population AF in is higher than 0.7% (1/20000‾‾‾‾‾‾‾‾√)<math xmlns:mml="http://www.w3.org/1998/Math/MathML" display="inline" id="M11"><mrow><mrow><mo>(</mo><mrow><msqrt><mrow><mn>1</mn><mo>/</mo><mn>20000</mn></mrow></msqrt></mrow><mo>)</mo></mrow></mrow></math>, the cutoff based on STGD disease prevalence, therefore were excluded from further analysis. The remaining 934 variants were subjected to our test model. As a result, 26 variants with the AF in the range of 0.46% to 0.03% were identified as likely benign (Binomial test1, Bonferroni correction p-value ≤ 0.05/934 and test2 Bonferroni correction p-value > 0.05/934) (Figure 3A).
This variant is reported in Table S6, but only location, predictions, frequencies, etc are reported for it, not cases.
-
Screening of reported pathogenic variants in ABCA4 for Stargardt (STGD) The disease prevalence of STGD is estimated as 1 in 10000 individuals4. It has been estimated that about 70% of STGD patients carry variants in ABCA45. Therefore, this represents the scenario of a recessive disease with a relatively homogeneous genetic cause. We screened 945 reported pathogenic variants in ABCA4 genes collected in HGMD. Among them, 11 variants are likely benign, as their population AF in is higher than 0.7% (1/20000‾‾‾‾‾‾‾‾√)<math xmlns:mml="http://www.w3.org/1998/Math/MathML" display="inline" id="M11"><mrow><mrow><mo>(</mo><mrow><msqrt><mrow><mn>1</mn><mo>/</mo><mn>20000</mn></mrow></msqrt></mrow><mo>)</mo></mrow></mrow></math>, the cutoff based on STGD disease prevalence, therefore were excluded from further analysis. The remaining 934 variants were subjected to our test model. As a result, 26 variants with the AF in the range of 0.46% to 0.03% were identified as likely benign (Binomial test1, Bonferroni correction p-value ≤ 0.05/934 and test2 Bonferroni correction p-value > 0.05/934) (Figure 3A).
This variant is reported in Table S6, but only location, predictions, frequencies, etc are reported for it, not cases.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
ABCA4
Unable to find this variant in the text or supplementary even though Mastermind says it's in supplemental MOESM1
-
- Jul 2026
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
rs2799573 10 18641934 CACNB2 T/C 0·715 0·825 4·29×10−8 1·08 (1·05–1·12) 0·57 Five disorder¶
GWAS identified rs2799573 as being associated with five disorders (autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia)
-