13940
Individual
Case#: 13940
Caseprevioustesting: SSCP Scan
Casemethod1: SSCP Scan
Casemethod2: PCR, Sanger Sequencing
Variant: NC_000022.11:g.29673267A>T (splice site acceptor, predicted/proven null)
CAID: CA16040592
gnomAD: not found
11 Matching Annotations
- Oct 2026
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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16221
Individual
Case#: 16221
Caseprevioustesting: SSCP Scan
Casemethod1: PCR, Sanger
Variant: NM_000268.3:c.544G>T (nonsense)
CAID: CA021432
Caseaddinfo: de novo
gnomad: not found
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16773
Case#: 16773
Caseprevioustesting: SSCP Scan
Casemethod1: PCR, Sanger
Variant: NM_000268.3:c.1579G>T (nonsense)
CAID: CA021349
Caseaddinfo:
gnomad: no data
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16885
Individual
Case#: 16885
Caseprevioustesting: SSCP Scan
Casemethod1: PCR, Sanger Sequencing
Variant: NM_000268.3:c.1387G>T (nonsense)
CAID: CA021321
Caseaddinfo:
gnomad: 0.00020
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14817
Individual
Case#: 14817
Caseprevioustesting: SSCP Scan
Casemethod1: PCR, Sanger
Variant: NM_000268.3:c.1396C>T (Arg 466X)
CAID: CA021327
CaseAddinfo: de novo
gnomad: no data
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NG1
Individual
Case#: NGI
Caseprevioustesting: SSCP Scan
Casemethod1: PCR, Sanger
Variant: NM_000268.3:c.1219C>T (nonsense)
CAID: CA021304
Caseaddinfo:
gnomad: no data
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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1769
Case#: G17690, 5yo at onset.
CasepresentingHPOs: HP:0000518, HP:0100014, HP:0000365,
CaseHPOfreeText: neural tumors, CNS and peripheral tumors.
CaseNotHPOs: HP:0010568
CasePreviousTesting: SSCP analysis
CaseMethod1: Direct sequencing of both PCR strands
Variant: NM_000268.3:c.169C>T (nonsense)
CAID: CA021370
Gnomad: not present
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G16221
Case#: G16221, 5yo at onset.
CasepresentingHPOs: HP:0000518,
CaseHPOfreeText: neural tumors, CNS and peripheral tumors.
CaseNotHPOs: HP:0010568, HP:0100014
CasePreviousTesting: SSCP analysis
CaseMethod1: Direct sequencing of both PCR strands
Variant: NR_156186.2:c.544C>T (nonsense)
CAID: CA323114415
CasePMIDs:
Gnomad: not found
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FF5863
Case#: FF5863, 8yo at onset.
CasepresentingHPOs: HP:0000518, HP:0100014, HP:0000365
CaseHPOfreeText: neural tumors
CaseNotHPOs:
CasePreviousTesting: SSCP analysis
CaseMethod1: Direct sequencing of both PCR strands
Variant: NM_000268.3:c.331C>T (nonsense)
CAID: CA411153326
Gnomad: 0.00043
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530
Case#: G5145, 12yo at onset.
CasepresentingHPOs: HP:0000518
CaseHPOfreeText: neural tumors
CaseNotHPOs: HP:0100014, HP:0000365
CasePreviousTesting: SSCP analysis
CaseMethod1: Direct sequencing of both PCR strands
Variant: NM_000268.3:c.586C>T (nonsense)
CAID: CA411142679
Gnomad: not present
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Am.J.Hum.
Case#: G170692, 4yo at onset.
CasepresentingHPOs:
CaseHPOfreeText: neural tumors
CaseNotHPOs: HP:0100014, HP:0000365, HP:0000518
CasePreviousTesting: SSCP analysis
CaseMethod1: Direct sequencing of both PCR strands
Variant: NM_000268.3:c.551G>A (nonsense)
CAID: CA411142590
Gnomad: not present
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