Variant #0000272239 (NC_000023.10:g.119760720C>T, C1GALT1C1(NM_152692.4):c.302G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.119760720C>T
DNA change (hg38) g.120626865C>T
Published as C1GALT1C1(NM_152692.4):c.302G>A (p.S101N)
ISCN -
DB-ID C1GALT1C1_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00424 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C1GALT1C1 NM_152692.4 -/. - c.302G>A r.(?) p.(Ser101Asn)