Variant #0001046837 (NC_000023.10:g.123020256G>T, NM_001167.3:c.744G>T (XIAP))

Chromosome X
Allele Unknown
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.123020256G>T
DNA change (hg38) -
Published as XIAP(NM_001167.4):c.744G>T (p.R248S)
ISCN -
DB-ID XIAP_000067
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2025-07-08 13:22:38 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
XIAP NM_001167.3 ?/. - c.744G>T r.(?) p.(Arg248Ser)


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