Full data view for gene GALC

Information The variants shown are described using the NM_000153.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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     
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - Healthy/Control - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.550C>T r.(?) p.(Arg184Cys) Unknown - benign g.88450770G>A g.87984426G>A GALC(NM_000153.3):c.550C>T (p.R184C) - GALC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.550C>T r.(?) p.(Arg184Cys) Unknown - benign g.88450770G>A g.87984426G>A GALC(NM_000153.3):c.550C>T (p.R184C) - GALC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.550C>T r.(?) p.(Arg184Cys) Parent #1 - likely benign g.88450770G>A g.87984426G>A - - GALC_000001 160 heterozygous; Clinindb (India) Faruq 2020, submtted - rs1805078 Germline - 160/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 160 Mohammed Faruq
-?/. - c.550C>T r.(?) p.(Arg184Cys) Both (homozygous) - likely benign g.88450770G>A g.87984426G>A - - GALC_000001 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs1805078 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
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