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 16:23622952 (forward strand) | View in location tab

Most severe consequence
Intron variant
Evidence status

Clinical significance


LSDB NM_024675.3:c.2996+17T>C

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays