Original source

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

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

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

Co-located variants

HGMD-PUBLIC CM993210, CM014404

Most severe consequence
 
Missense variant
Evidence status

Synonyms

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