chr15:63336299:C>T Detail (hg19) (TPM1)

Information

Genome

Assembly Position
hg19 chr15:63,336,299-63,336,299
hg38 chr15:63,044,100-63,044,100 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001018006.1:c.188C>T NP_001018006.1:p.Ala63Val
NM_001018004.1:c.188C>T NP_001018004.1:p.Ala63Val
NM_000366.5:c.188C>T NP_000357.3:p.Ala63Val
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2018-01-12 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-06-23 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Uncertain significance 2021-08-09 criteria provided, single submitter germline Detail
Pathogenic 2022-03-31 criteria provided, single submitter hypertrophic cardiomyopathy 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Observation of Neuromuscular Block Hypertrophic cardiomyopathy mutations A63V and E180G in alpha-tropomyosin (alpha... BeFree 15059934 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) AND not provided ClinVar Detail
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) AND Cardiovascular phenotype ClinVar Detail
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) AND Hypertrophic cardiomyopathy 3 ClinVar Detail
Hypertrophic cardiomyopathy mutations A63V and E180G in alpha-tropomyosin (alpha-Tm) have been shown... 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
rs199476306 dbSNP
Genome
hg19
Position
chr15:63,336,299-63,336,299
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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