Full data view for gene GAD1

Information The variants shown are described using the NM_000817.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.35C>G r.(?) p.(Ser12Cys) Both (homozygous) - VUS g.171675136C>G g.170818626C>G - - GAD1_000019 reclassified in Morgan 2021 PubMed: Morgan 2021, PubMed: Lynex 2004 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV1 PubMed: Morgan 2021, PubMed: Lynex 2004 5-generation family, 7 affected (3F, 4M), unaffected heterozygous parents/relatives F yes United Kingdom (Great Britain) Pakistan - - - - 7 Johan den Dunnen
?/. - c.35C>G r.(?) p.(Ser12Cys) Both (homozygous) - VUS g.171675136C>G g.170818626C>G - - GAD1_000019 reclassified in Morgan 2021 PubMed: Morgan 2021, PubMed: Lynex 2004 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV2 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
?/. - c.35C>G r.(?) p.(Ser12Cys) Both (homozygous) - VUS g.171675136C>G g.170818626C>G - - GAD1_000019 reclassified in Morgan 2021 PubMed: Morgan 2021, PubMed: Lynex 2004 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV5 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
?/. - c.35C>G r.(?) p.(Ser12Cys) Both (homozygous) - VUS g.171675136C>G g.170818626C>G - - GAD1_000019 reclassified in Morgan 2021 PubMed: Morgan 2021, PubMed: Lynex 2004 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV7 PubMed: Morgan 2021, PubMed: Lynex 2004 sister F yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
?/. - c.35C>G r.(?) p.(Ser12Cys) Both (homozygous) - VUS g.171675136C>G g.170818626C>G - - GAD1_000019 reclassified in Morgan 2021 PubMed: Morgan 2021, PubMed: Lynex 2004 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamA;FamPatV8 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
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