Original source

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

C/A|Ancestral: C|Ambiguity code: M

Chromosome 6:129297729 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM981162 ; PhenCode LAMA2:c.2901C>A (C/A)

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 4041, NM_000426.3:c.2901C>A

HGVS names

This variant has 10 HGVS names - Show

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays