Original source

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

A/G | Ancestral: A | Ambiguity code: R | MAF: < 0.01 (G)

Chromosome 4:38796880 (forward strand) | View in location tab


with HGMD-PUBLIC CM114631

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NM_003263.3:c.1952T>C

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays