chr2:179664293:G>A Detail (hg19) (TTN)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr2:179,664,293-179,664,293
hg38	chr2:178,799,566-178,799,566 View the variant detail on this assembly version.

HGVS

TTN

Type	Transcript	Protein
RefSeq	NM_001256850.1:c.835C>T	NP_001243779.1:p.Arg279Trp
	NM_133378.4:c.835C>T	NP_596869.4:p.Arg279Trp
	NM_133379.4:c.835C>T	NP_596870.2:p.Arg279Trp
	NM_003319.4:c.835C>T	NP_003310.4:p.Arg279Trp
	NM_133432.3:c.835C>T	NP_597676.3:p.Arg279Trp
	NM_133437.4:c.835C>T	NP_597681.4:p.Arg279Trp
	NM_001267550.2:c.835C>T	NP_001254479.2:p.Arg279Trp
Ensemble	ENST00000342175.12:c.835C>T	ENST00000342175.12:p.Arg279Trp
	ENST00000342992.11:c.835C>T	ENST00000342992.11:p.Arg279Trp
	ENST00000359218.11:c.835C>T	ENST00000359218.11:p.Arg279Trp
	ENST00000360870.10:c.835C>T	ENST00000360870.10:p.Arg279Trp
	ENST00000446966.2:c.835C>T	ENST00000446966.2:p.Arg279Trp
	ENST00000460472.6:c.835C>T	ENST00000460472.6:p.Arg279Trp
	ENST00000589042.5:c.835C>T	ENST00000589042.5:p.Arg279Trp
	ENST00000591111.5:c.835C>T	ENST00000591111.5:p.Arg279Trp
	ENST00000634225.2:c.835C>T	ENST00000634225.2:p.Arg279Trp
	ENST00000715174.1:c.835C>T	ENST00000715174.1:p.Arg279Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

TTN

Type	Database	ID	Link
Gene	MIM	188840	OMIM
	HGNC	12403	HGNC
	Ensembl	ENSG00000155657	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM2709578	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2017-04-27	criteria provided, single submitter	Myopathy, myofibrillar, 9, with early respiratory failure	germline	Detail
Uncertain significance	2022-10-12	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely benign	2023-06-19	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Uncertain significance	2017-05-08	criteria provided, single submitter	autosomal recessive limb-girdle muscular dystrophy type 2J,dilated cardiomyopathy 1G	germline	Detail
Uncertain significance	2017-05-08	criteria provided, single submitter	autosomal recessive limb-girdle muscular dystrophy type 2J,dilated cardiomyopathy 1G	germline	Detail
Uncertain significance	2018-11-13	criteria provided, single submitter		germline	Detail
Likely benign	2020-12-10	criteria provided, single submitter	cardiomyopathy	germline	Detail
Uncertain significance	2017-04-27	criteria provided, single submitter	Early-onset myopathy with fatal cardiomyopathy	germline	Detail
Uncertain significance	2017-04-27	criteria provided, single submitter	tibial muscular dystrophy	germline	Detail
Uncertain significance	2017-04-27	criteria provided, single submitter	dilated cardiomyopathy 1G	germline	Detail
Uncertain significance	2017-04-27	criteria provided, single submitter	autosomal recessive limb-girdle muscular dystrophy type 2J	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.483	Hereditary Myopathy with Early Respiratory Failure	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND Myopathy, myofibrillar, 9, with early respiratory fai...	ClinVar	Detail
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND not provided	ClinVar	Detail
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND not specified	ClinVar	Detail
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND multiple conditions	ClinVar	Detail
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND multiple conditions	ClinVar	Detail
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND Cardiovascular phenotype	ClinVar	Detail
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND Cardiomyopathy	ClinVar	Detail
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND Early-onset myopathy with fatal cardiomyopathy	ClinVar	Detail
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND Tibial muscular dystrophy	ClinVar	Detail
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND Dilated cardiomyopathy 1G	ClinVar	Detail
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) AND Autosomal recessive limb-girdle muscular dystrophy ty...	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs138060032 dbSNP
Genome: hg19
Position: chr2:179,664,293-179,664,293
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8616
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121358
Allele Counts in All Race (ExAC): 16
Heterozygous Counts in All Race (ExAC): 16
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.3184132896059593E-4

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