chr1:154172972:G>A Detail (hg38) (TPM3)

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

Genome

Assembly	Position
hg19	chr1:154,145,448-154,145,448 View the variant detail on this assembly version.
hg38	chr1:154,172,972-154,172,972

HGVS

TPM3

Type	Transcript	Protein
RefSeq	NM_001278191.1:c.121C>T	NP_001265120.1:p.Arg41Cys
	NM_001278189.1:c.391C>T	NP_001265118.1:p.Arg131Cys
	NM_001043351.1:c.391C>T	NP_001036816.1:p.Arg131Cys
	NM_001043353.1:c.391C>T	NP_001036818.1:p.Arg131Cys
	NM_152263.3:c.502C>T	NP_689476.2:p.Arg168Cys
	NM_001043352.1:c.391C>T	NP_001036817.1:p.Arg131Cys
	NM_001278188.1:c.391C>T	NP_001265117.1:p.Arg131Cys
	NM_153649.3:c.391C>T	NP_705935.1:p.Arg131Cys
	NR_103461.1:c.391C>T
	NM_001278190.1:c.391C>T	NP_001265119.1:p.Arg131Cys
Ensemble	ENST00000271850.11:c.502C>T	ENST00000271850.11:p.Arg168Cys
	ENST00000302206.9:c.121C>T	ENST00000302206.9:p.Arg41Cys
	ENST00000323144.12:c.391C>T	ENST00000323144.12:p.Arg131Cys
	ENST00000328159.9:c.391C>T	ENST00000328159.9:p.Arg131Cys
	ENST00000330188.13:c.391C>T	ENST00000330188.13:p.Arg131Cys
	ENST00000368530.7:c.502C>T	ENST00000368530.7:p.Arg168Cys
	ENST00000368531.6:c.391C>T	ENST00000368531.6:p.Arg131Cys
	ENST00000368533.8:c.391C>T	ENST00000368533.8:p.Arg131Cys
	ENST00000611659.5:c.391C>T	ENST00000611659.5:p.Arg131Cys
	ENST00000651641.1:c.502C>T	ENST00000651641.1:p.Arg168Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

TPM3

Type	Database	ID	Link
Gene	MIM	191030	OMIM
	HGNC	12012	HGNC
	Ensembl	ENSG00000143549	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Congenital myopathy with fiber type disproportion	unknown	Detail
Pathogenic	2013-12-01	no assertion criteria provided	Congenital myopathy 4A, autosomal dominant	germline	Detail
Pathogenic	2022-12-28	criteria provided, multiple submitters, no conflicts	not provided	de novo germline not provided	Detail
Pathogenic	2016-06-07	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2024-01-19	criteria provided, single submitter	Congenital myopathy with fiber type disproportion,Congenital myopathy 4B, autosomal recessive	germline	Detail
Pathogenic	2024-01-19	criteria provided, single submitter	Congenital myopathy with fiber type disproportion,Congenital myopathy 4B, autosomal recessive	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	Congenital Fiber Type Disproportion	NA	CLINVAR		Detail
0.361	Congenital Fiber Type Disproportion	Congenital fiber type disproportion with delayed fiber type maturation and the a...	BeFree	23924754	Detail

Annotation

Annotations

Descrption	Source	Links
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) AND Congenital myopathy with fiber type disproportion	ClinVar	Detail
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) AND Congenital myopathy 4A, autosomal dominant	ClinVar	Detail
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) AND not provided	ClinVar	Detail
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) AND Inborn genetic diseases	ClinVar	Detail
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) AND multiple conditions	ClinVar	Detail
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap str...	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: rs121964854 dbSNP
Genome: hg38
Position: chr1:154,172,972-154,172,972
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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