Original source

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

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

Most severe consequence
 
Splice region variant
Evidence status

Clinical significance

Synonyms

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 3 phenotypes.

Variant displays