Variant #0000865312 (NC_000017.10:g.42462967G>C, ITGA2B(NM_000419.3):c.526C>G)

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42462967G>C
DNA change (hg38) -
Published as ITGA2B(NM_000419.3):c.526C>G (p.P176A)
ISCN -
DB-ID ITGA2B_000013 See all 2 reported entries
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) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ITGA2B NM_000419.3 +/. - c.526C>G r.(?) p.(Pro176Ala)