Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 19:55154146 (forward strand)|View in location tab

Co-located variants

COSMIC COSM475295 ; HGMD-PUBLIC CM971498, CM030285 ; PhenCode FHC0405 (G/A), FHC0407 (G/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

About this variant

This variant overlaps 58 transcripts and is associated with 6 phenotypes.

Variant displays