Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)

Chromosome 17:63917810 (forward strand) | View in location tab


with HGMD-PUBLIC CM012951, CM067672

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_011919

This variant has 11 HGVS names - click the plus to show

This variant has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 7 transcripts, has 2776 sample genotypes and is mentioned in 1 citation.

Variant displays