Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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 - click the plus to show

This variant has 19 HGVS names - click the plus to 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 3 phenotypes.

Variant displays