Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 16:56885363 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM993210, CM014404

Most severe consequence
Missense variant
Evidence status


Uniprot VAR_039519

HGVS names

This variant has 18 HGVS names - Show

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays