chr2:178777856:A>G Detail (hg38) (TTN, LOC101927055)

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

Information

Genome

Assembly	Position
hg19	chr2:179,642,583-179,642,583 View the variant detail on this assembly version.
hg38	chr2:178,777,856-178,777,856

HGVS

Type	Transcript	Protein
RefSeq	NM_001256850.1:c.4328T>C	NP_001243779.1:p.Leu1443Pro
	NM_133378.4:c.4328T>C	NP_596869.4:p.Leu1443Pro
	NM_133379.4:c.4328T>C	NP_596870.2:p.Leu1443Pro
	NM_003319.4:c.4190T>C	NP_003310.4:p.Leu1397Pro
	NM_133432.3:c.4190T>C	NP_597676.3:p.Leu1397Pro
	NM_133437.4:c.4190T>C	NP_597681.4:p.Leu1397Pro
	NM_001267550.2:c.4328T>C	NP_001254479.2:p.Leu1443Pro
Ensemble	ENST00000342175.12:c.4190T>C	ENST00000342175.12:p.Leu1397Pro
	ENST00000342992.11:c.4328T>C	ENST00000342992.11:p.Leu1443Pro
	ENST00000359218.11:c.4190T>C	ENST00000359218.11:p.Leu1397Pro
	ENST00000360870.10:c.4328T>C	ENST00000360870.10:p.Leu1443Pro
	ENST00000446966.2:c.4328T>C	ENST00000446966.2:p.Leu1443Pro
	ENST00000460472.6:c.4190T>C	ENST00000460472.6:p.Leu1397Pro
	ENST00000589042.5:c.4328T>C	ENST00000589042.5:p.Leu1443Pro
	ENST00000591111.5:c.4328T>C	ENST00000591111.5:p.Leu1443Pro
	ENST00000634225.2:c.4190T>C	ENST00000634225.2:p.Leu1397Pro
	ENST00000715174.1:c.3914T>C	ENST00000715174.1:p.Leu1305Pro

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	Benign Likely benign
Review star
Show details

Links

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	tgv313298233	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2020-11-14	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Benign Likely benign	2023-11-22	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2013-11-26	criteria provided, single submitter		germline	Detail
Benign	2021-09-10	criteria provided, multiple submitters, no conflicts	autosomal recessive limb-girdle muscular dystrophy type 2J	germline	Detail
Likely benign	2018-01-13	criteria provided, single submitter	dilated cardiomyopathy 1G	germline	Detail
Benign	2021-09-10	criteria provided, multiple submitters, no conflicts	Myopathy, myofibrillar, 9, with early respiratory failure	germline	Detail
Benign	2021-09-10	criteria provided, multiple submitters, no conflicts	Early-onset myopathy with fatal cardiomyopathy	germline	Detail
Benign	2021-09-10	criteria provided, multiple submitters, no conflicts	tibial muscular dystrophy	germline	Detail
Benign	2019-05-14	criteria provided, single submitter	cardiomyopathy,long QT syndrome	germline	Detail
Benign	2019-05-14	criteria provided, single submitter	cardiomyopathy,long QT syndrome	germline	Detail
Benign	2024-01-31	criteria provided, single submitter	dilated cardiomyopathy 1G,autosomal recessive limb-girdle muscular dystrophy type 2J	germline	Detail
Benign	2024-01-31	criteria provided, single submitter	dilated cardiomyopathy 1G,autosomal recessive limb-girdle muscular dystrophy type 2J	germline	Detail
Benign	2018-01-31	criteria provided, single submitter	cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND not specified	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND not provided	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND Cardiovascular phenotype	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND Autosomal recessive limb-girdle muscular dystrophy ...	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND Dilated cardiomyopathy 1G	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND Myopathy, myofibrillar, 9, with early respiratory f...	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND Early-onset myopathy with fatal cardiomyopathy	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND Tibial muscular dystrophy	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND multiple conditions	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND multiple conditions	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND multiple conditions	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND multiple conditions	ClinVar	Detail
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) AND Cardiomyopathy	ClinVar	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: rs142317580 dbSNP
Genome: hg38
Position: chr2:178,777,856-178,777,856
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8606
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): 121134
Allele Counts in All Race (ExAC): 527
Heterozygous Counts in All Race (ExAC): 501
Homozygous Counts in All Race (ExAC): 13
Allele Frequency in All Race (ExAC): 0.00435055393200918

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