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 (G)

Chromosome 19:46755610 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM040123 ; PhenCode FKRP:c.160C>T (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 74 HGVS names - Show

About this variant

This variant overlaps 48 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 3 phenotypes.

Variant displays