Original source

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

G/C | Ancestral: G | Ambiguity code: S | MAF: < 0.01 (C)

Chromosome 8:31141680 (forward strand) | View in location tab


with HGMD-PUBLIC CS961715

Most severe consequence
Splice acceptor variant
Evidence status

Clinical significance


LSDB NG_008870.1:g.113419G>C_1275968491, NM_000553.4:c.3139-1G>C

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 3 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays