Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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 CM067672, CM012951

Most severe consequence
Evidence status


Uniprot VAR_011919

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

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

About this variant

This variant overlaps 7 transcripts, has 1364 individual genotypes and is mentioned in 1 citation.

Variation displays