Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)

Chromosome 1:156130617 (forward strand) | View in location tab


with HGMD-PUBLIC CS111725 ; PhenCode HIFD_LMNA:c.357C>T (C/T)

Most severe consequence
Splice region variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 31 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_HumanOmni1-Quad, Illumina_ExomeChip

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays