Original source

Data from NHLBI ESP version v.0.0.28. The goal of the NHLBI GO Exome Sequencing Project is to discover novel genes and mechanisms contributing to heart, lung and blood disorders by sequencing the protein coding regions of the human genome (release 05/2014) | [View in ESP]

C/T | Ancestral: C | Ambiguity code: Y

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


with HGMD-PUBLIC CM062824 ; PhenCode HIFD_LMNB2:c.644G>A (C/T) ; dbSNP rs121912497 (C/T)

Most severe consequence
Evidence status

This variation has 5 HGVS names - click the plus to show

About this variant

This variant overlaps 7 transcripts and is associated with 1 phenotype.

Variation displays