chr1:154172969:T>C 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	chr1:154,145,445-154,145,445 View the variant detail on this assembly version.
hg38	chr1:154,172,969-154,172,969

HGVS

TPM3

Type	Transcript	Protein
RefSeq	NM_001278191.1:c.124A>G	NP_001265120.1:p.Lys42Glu
	NM_001278189.1:c.394A>G	NP_001265118.1:p.Lys132Glu
	NM_001043351.1:c.394A>G	NP_001036816.1:p.Lys132Glu
	NM_001043353.1:c.394A>G	NP_001036818.1:p.Lys132Glu
	NM_152263.3:c.505A>G	NP_689476.2:p.Lys169Glu
	NM_001043352.1:c.394A>G	NP_001036817.1:p.Lys132Glu
	NM_001278188.1:c.394A>G	NP_001265117.1:p.Lys132Glu
	NM_153649.3:c.394A>G	NP_705935.1:p.Lys132Glu
	NR_103461.1:c.394A>G
	NM_001278190.1:c.394A>G	NP_001265119.1:p.Lys132Glu
Ensemble	ENST00000271850.11:c.505A>G	ENST00000271850.11:p.Lys169Glu
	ENST00000302206.9:c.124A>G	ENST00000302206.9:p.Lys42Glu
	ENST00000323144.12:c.394A>G	ENST00000323144.12:p.Lys132Glu
	ENST00000328159.9:c.394A>G	ENST00000328159.9:p.Lys132Glu
	ENST00000330188.13:c.394A>G	ENST00000330188.13:p.Lys132Glu
	ENST00000368530.7:c.505A>G	ENST00000368530.7:p.Lys169Glu
	ENST00000368531.6:c.394A>G	ENST00000368531.6:p.Lys132Glu
	ENST00000368533.8:c.394A>G	ENST00000368533.8:p.Lys132Glu
	ENST00000611659.5:c.394A>G	ENST00000611659.5:p.Lys132Glu
	ENST00000651641.1:c.505A>G	ENST00000651641.1:p.Lys169Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.361	Congenital Fiber Type Disproportion	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu) AND Congenital myopathy with fiber type disproportion	ClinVar	Detail
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu) AND not provided	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: rs199474715 dbSNP
Genome: hg38
Position: chr1:154,172,969-154,172,969
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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