OBSCN

This page contains an overview of the genetic variation in the OBSCN gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

OBSCN gene and transcript details

Gene Name
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Gene Links
Ensembl: ENSG00000154358 - Locus Reference Genomic: LRG_412

Genomic Location
Chromosome 1 : 228,399,485 - 228,548,456 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (19860 bases)Protein (6620 aa)
ENST00000284548 ENSP00000284548
LRG_412t1LRG_412p1
NM_052843.2

Summary of OBSCN in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of OBSCN in HCM (see study in the European Heart Journal), it is classified as:
No Evidence.


OBSCN variants in ExAC

Details of the protein-altering OBSCN variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants31890.05850
Truncating1960.00269
Missense27820.05247
Inframe180.00020
Splice Site1930.00316

Rare variants are defined as having a mean allelic frequency of less than 0.0001.