This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N

Chromosome 19:55151892 (forward strand) | View in location tab


with HGMD-PUBLIC CM030288 ; PhenCode FHC0415 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 30 HGVS names - Show

About this variant

This variant overlaps 72 transcripts and is associated with 6 phenotypes.

Variant displays