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 (G)
Location

Chromosome 17:50170245 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM971346 ; PhenCode SGCA:c.850C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 26 HGVS names - Show

About this variant

This variant overlaps 30 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays