chr1:154172971:C>T 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	chr1:154,145,447-154,145,447 View the variant detail on this assembly version.
hg38	chr1:154,172,971-154,172,971

HGVS

TPM3

Type	Transcript	Protein
RefSeq	NM_001278191.1:c.122G>A	NP_001265120.1:p.Arg41His
	NM_001278189.1:c.392G>A	NP_001265118.1:p.Arg131His
	NM_001043351.1:c.392G>A	NP_001036816.1:p.Arg131His
	NM_001043353.1:c.392G>A	NP_001036818.1:p.Arg131His
	NM_152263.3:c.503G>A	NP_689476.2:p.Arg168His
	NM_001043352.1:c.392G>A	NP_001036817.1:p.Arg131His
	NM_001278188.1:c.392G>A	NP_001265117.1:p.Arg131His
	NM_153649.3:c.392G>A	NP_705935.1:p.Arg131His
	NR_103461.1:c.392G>A
	NM_001278190.1:c.392G>A	NP_001265119.1:p.Arg131His
Ensemble	ENST00000271850.11:c.503G>A	ENST00000271850.11:p.Arg168His
	ENST00000302206.9:c.122G>A	ENST00000302206.9:p.Arg41His
	ENST00000323144.12:c.392G>A	ENST00000323144.12:p.Arg131His
	ENST00000328159.9:c.392G>A	ENST00000328159.9:p.Arg131His
	ENST00000330188.13:c.392G>A	ENST00000330188.13:p.Arg131His
	ENST00000368530.7:c.503G>A	ENST00000368530.7:p.Arg168His
	ENST00000368531.6:c.392G>A	ENST00000368531.6:p.Arg131His
	ENST00000368533.8:c.392G>A	ENST00000368533.8:p.Arg131His
	ENST00000611659.5:c.392G>A	ENST00000611659.5:p.Arg131His
	ENST00000651641.1:c.503G>A	ENST00000651641.1:p.Arg168His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
Pathogenic	2020-05-03	criteria provided, single submitter	Congenital myopathy 4B, autosomal recessive	unknown	Detail
Pathogenic	2009-10-01	no assertion criteria provided	Congenital myopathy 4A, autosomal dominant	germline	Detail
Pathogenic	2023-03-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-04-12	criteria provided, single submitter	Congenital myopathy with fiber type disproportion,Congenital myopathy 4B, autosomal recessive	germline	Detail
Pathogenic	2023-04-12	criteria provided, single submitter	Congenital myopathy with fiber type disproportion,Congenital myopathy 4B, autosomal recessive	germline	Detail
Pathogenic	2021-04-26	criteria provided, single submitter		unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.016	Myopathies, Nemaline	We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) w...	BeFree	18300303	Detail
0.361	Congenital Fiber Type Disproportion	NA	CLINVAR		Detail
0.360	nemaline myopathy 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND Congenital myopathy 4B, autosomal recessive	ClinVar	Detail
NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND Congenital myopathy 4A, autosomal dominant	ClinVar	Detail
NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND not provided	ClinVar	Detail
NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND multiple conditions	ClinVar	Detail
NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND multiple conditions	ClinVar	Detail
NM_152263.4(TPM3):c.503G>A (p.Arg168His) AND See cases	ClinVar	Detail
We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) was associated with h...	DisGeNET	Detail
NA	DisGeNET	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: rs121964852 dbSNP
Genome: hg38
Position: chr1:154,172,971-154,172,971
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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