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 4:38796812 (forward strand) | View in location tab

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NM_003263.3:c.2020G>A

HGVS names

This variant has 6 HGVS names - Show

About this variant

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

Variant displays