Variant #0000400954 (NC_000023.10:g.119760594G>A, C1GALT1C1(NM_152692.4):c.428C>T)

Individual ID 00173434
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.119760594G>A
DNA change (hg38) g.120626739G>A
Published as A143V
ISCN -
DB-ID C1GALT1C1_000004
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02284 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C1GALT1C1 NM_152692.4 ?/. 3 c.428C>T r.(?) p.(Ala143Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174317 DNA SEQ - - SLC10A3 1 Lucy Raymond