Original source

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

Alleles
C/A/G|Ancestral: C|Ambiguity code: V|MAF: < 0.01 (G)
Location

Chromosome 16:177040 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM940889

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 14 HGVS names - Show

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature, has 2504 sample genotypes and is mentioned in 5 citations.

Variant displays