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 5:1278749 (forward strand) | View in location tab

Most severe consequence
Synonymous variant
Evidence status

Clinical significance


LSDB NM_198253.2:c.2178G>A

HGVS names

This variant has 13 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays