Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)

Chromosome 14:24255457 (forward strand) | View in location tab


with HGMD-PUBLIC CM981918 ; ESP TMP_ESP_14_24724663_24724663 (C/-)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 4 transcripts, has 2612 sample genotypes and is associated with 2 phenotypes.

Variant displays