Original source

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

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

Chromosome 14:73171047 (forward strand) | View in location tab


with HGMD-PUBLIC CM003611, CM055497

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 26 HGVS names - Show

About this variant

This variant overlaps 22 transcripts, 1 regulatory feature, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays