TTN-AS1

ncRNA

TTN antisense RNA 1, the group of Antisense RNAs

Gene summary

This gene encodes a non-coding RNA transcribed from the opposite strand to the titin gene. [provided by RefSeq, Aug 2016]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:3U:5B:4

Top phenotype

Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J

Max pathogenic AF

—

Genomic locus

chr2:178,521,183-178,779,963

External References & Databases

Ensembl (ENSG00000237298)

NCBI Gene (100506866)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TTN-AS1 variants in ClinVar

20 Conditions Cataloged

not providedTotal: 80

Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2JTotal: 22

Dilated cardiomyopathy 1GTotal: 19

Cardiovascular phenotypeTotal: 15

Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1GTotal: 14

Primary dilated cardiomyopathyTotal: 9

Autosomal recessive limb-girdle muscular dystrophy type 2JTotal: 9

CardiomyopathyTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		3 clinvar	5 clinvar	4 clinvar		12
Total	0	3	5	4	0	12

Highest pathogenic variant AF is 0.0000131541

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP