Original source

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

A/G/T|Ancestral: A|Ambiguity code: D

Chromosome 11:67490391 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM071538, CM106676

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB NM_003977.2:c.721A>T, NM_003977.2:c.721A>G

HGVS names

This variant has 20 HGVS names - Show

About this variant

This variant overlaps 26 transcripts and is associated with 2 phenotypes.

Variant displays