Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.22 (T)

Chromosome 1:156137743 (forward strand) | View in location tab


with COSMIC COSM3750412 (C/T), COSM3750413 (C/T) ; HGMD-PUBLIC CM003892 ; PhenCode HIFD_LMNA:c.1698C>T (C/T)

Most severe consequence
Splice region variant
Evidence status

Clinical significance


This variant has 7 synonyms - Show

HGVS names

This variant has 26 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 24 transcripts, has 3728 sample genotypes, is associated with 1 phenotype and is mentioned in 10 citations.

Variant displays