Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 26 HGVS names - click the plus to show

About this variant

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

Variant displays