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 19:2435152 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM062824 ; PhenCode HIFD_LMNB2:c.644G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 7 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays