Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 19:55154047 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030287 ; PhenCode FHC0394 (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

About this variant

This variant overlaps 29 transcripts and is associated with 2 phenotypes.

Variant displays