chr1:154140414:T>G Detail (hg19) (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	chr1:154,140,414-154,140,414
hg38	chr1:154,167,938-154,167,938 View the variant detail on this assembly version.

HGVS

TPM3

Type	Transcript	Protein
RefSeq	NM_001278191.1:c.394+2462A>C
	NM_001043352.1:c.664+2462A>C
	NM_001278188.1:c.664+2462A>C
	NM_153649.3:c.664+2462A>C
	NR_103461.1:c.664+2462A>C
	NM_001278190.1:c.601+2462A>C
	NM_152263.3:c.857A>C	NP_689476.2:p.Ter286Serext*?
	NM_001043351.1:c.664+2462A>C
	NM_001043353.1:c.664+2462A>C
	NM_001278189.1:c.743+1367A>C
Ensemble	ENST00000368531.6:c.664+2462A>C
	ENST00000302206.9:c.394+2462A>C
	ENST00000368533.8:c.664+2462A>C
	ENST00000611659.5:c.601+2462A>C
	ENST00000651641.1:c.857A>C	ENST00000651641.1:p.Ter286Serext*?
	ENST00000271850.11:c.775+2462A>C
	ENST00000368530.7:c.857A>C	ENST00000368530.7:p.Ter286Serext*?
	ENST00000330188.13:c.664+2462A>C
	ENST00000328159.9:c.743+1367A>C
	ENST00000323144.12:c.664+2462A>C

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	Likely 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
Pathogenic	2008-03-01	no assertion criteria provided	Congenital myopathy 4B, autosomal recessive	germline unknown	Detail
not provided		no assertion provided	not provided	germline	Detail
Likely pathogenic	2023-10-11	criteria provided, single submitter	Congenital myopathy 4B, autosomal recessive,Congenital myopathy with fiber type disproportion	germline	Detail
Likely pathogenic	2023-10-11	criteria provided, single submitter	Congenital myopathy 4B, autosomal recessive,Congenital myopathy with fiber type disproportion	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	nemaline myopathy 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) AND Congenital myopathy 4B, autosomal recessive	ClinVar	Detail
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) AND not provided	ClinVar	Detail
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) AND multiple conditions	ClinVar	Detail
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) AND multiple conditions	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: rs199474720 dbSNP
Genome: hg19
Position: chr1:154,140,414-154,140,414
Variant Type: snv
Reference Allele: T
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): 120398
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.305785810395521E-6

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