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NM_003289.4(TPM2):c.440A>C (p.Gln147Pro) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000128685.1

Allele description [Variation Report for NM_003289.4(TPM2):c.440A>C (p.Gln147Pro)]

NM_003289.4(TPM2):c.440A>C (p.Gln147Pro)

Gene:
TPM2:tropomyosin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro)
HGVS:
  • NC_000009.12:g.35685486T>G
  • NG_011620.1:g.9572A>C
  • NM_001301226.2:c.440A>C
  • NM_001301227.2:c.440A>C
  • NM_003289.4:c.440A>CMANE SELECT
  • NM_213674.1:c.440A>C
  • NP_001288155.1:p.Gln147Pro
  • NP_001288156.1:p.Gln147Pro
  • NP_003280.2:p.Gln147Pro
  • NP_003280.2:p.Gln147Pro
  • NP_998839.1:p.Gln147Pro
  • LRG_680t1:c.440A>C
  • LRG_680t2:c.440A>C
  • LRG_680:g.9572A>C
  • LRG_680p1:p.Gln147Pro
  • LRG_680p2:p.Gln147Pro
  • NC_000009.11:g.35685483T>G
  • NM_003289.3:c.440A>C
  • P07951:p.Gln147Pro
Protein change:
Q147P; GLN147PRO
Links:
UniProtKB: P07951#VAR_013469; OMIM: 190990.0002; dbSNP: rs104894128
NCBI 1000 Genomes Browser:
rs104894128
Molecular consequence:
  • NM_001301226.2:c.440A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001301227.2:c.440A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003289.4:c.440A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_213674.1:c.440A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172325TPM2 homepage - Leiden Muscular Dystrophy pages
no classification provided
not providedde novonot provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novonot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Donner K, Ollikainen M, Ridanpää M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2002 Feb;12(2):151-8.

PubMed [citation]
PMID:
11738357

Details of each submission

From TPM2 homepage - Leiden Muscular Dystrophy pages, SCV000172325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novonot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024