Original source

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

Alleles
A/C/G|Ancestral: A|Ambiguity code: V
Location

Chromosome 1:156134795 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CS055592 ; PhenCode HIFD_LMNA:c.640-10A>C (A/C), HIFD_LMNA:c.640-10A>G (A/G)

Most severe consequence
 
Intron variant
Evidence status

Clinical significance

Synonyms

LSDB EDMD_15, LMNA:c.640-10A>G, LMNA:c.640-10A>C

HGVS names

This variant has 30 HGVS names - Show

About this variant

This variant overlaps 48 transcripts and is associated with 2 phenotypes.

Variant displays