chr15:63061758:C>G Detail (hg38) (TPM1)

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

Information

Genome

Assembly	Position
hg19	chr15:63,353,957-63,353,957 View the variant detail on this assembly version.
hg38	chr15:63,061,758-63,061,758

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.609C>G	NP_001018007.1:p.Asn203Lys
	NM_000366.5:c.640-457C>G
	NM_001330351.1:c.532-457C>G
	NM_001018008.1:c.501C>G	NP_001018008.1:p.Asn167Lys
	NM_001018006.1:c.640-457C>G
	NM_001018005.1:c.609C>G	NP_001018005.1:p.Asn203Lys
	NM_001301244.1:c.609C>G	NP_001288173.1:p.Asn203Lys
	NM_001301289.1:c.532-457C>G
	NM_001330346.1:c.501C>G	NP_001317275.1:p.Asn167Lys
	NM_001018020.1:c.640-457C>G
	NM_001018004.1:c.609C>G	NP_001018004.1:p.Asn203Lys
Ensemble	ENST00000267996.11:c.609C>G	ENST00000267996.11:p.Asn203Lys
	ENST00000288398.10:c.640-457C>G
	ENST00000317516.12:c.532-457C>G
	ENST00000334895.10:c.501C>G	ENST00000334895.10:p.Asn167Lys
	ENST00000357980.9:c.735C>G	ENST00000357980.9:p.Asn245Lys
	ENST00000358278.7:c.640-457C>G
	ENST00000403994.9:c.609C>G	ENST00000403994.9:p.Asn203Lys
	ENST00000404484.9:c.532-457C>G
	ENST00000558910.3:c.501C>G	ENST00000558910.3:p.Asn167Lys
	ENST00000559281.6:c.501C>G	ENST00000559281.6:p.Asn167Lys
	ENST00000559397.6:c.640-457C>G
	ENST00000559556.5:c.609C>G	ENST00000559556.5:p.Asn203Lys
	ENST00000560615.6:c.262-457C>G
	ENST00000560959.5:c.532-457C>G
	ENST00000560970.6:c.609C>G	ENST00000560970.6:p.Asn203Lys
	ENST00000561266.6:c.609C>G	ENST00000561266.6:p.Asn203Lys
	ENST00000651577.1:c.231C>G	ENST00000651577.1:p.Asn77Lys
	ENST00000651704.1:c.231C>G	ENST00000651704.1:p.Asn77Lys
	ENST00000714013.1:c.735C>G	ENST00000714013.1:p.Asn245Lys
	ENST00000714014.1:c.640-457C>G
	ENST00000714017.1:c.609C>G	ENST00000714017.1:p.Asn203Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

TPM1

Type	Database	ID	Link
Gene	MIM	191010	OMIM
	HGNC	12010	HGNC
	Ensembl	ENSG00000140416	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
Uncertain significance	2023-05-05	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail
Uncertain significance	2022-12-07	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) AND Cardiovascular phenotype	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: rs397516486 dbSNP
Genome: hg38
Position: chr15:63,061,758-63,061,758
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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