Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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


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

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 30 HGVS names - click the plus to show

About this variant

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

Variation displays