NM_033337.2(CAV3):c.260T>C (p.Leu87Pro) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000024387.1

Allele description [Variation Report for NM_033337.2(CAV3):c.260T>C (p.Leu87Pro)]

NM_033337.2(CAV3):c.260T>C (p.Leu87Pro)

Gene:
CAV3:caveolin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_033337.2(CAV3):c.260T>C (p.Leu87Pro)
HGVS:
  • NC_000003.12:g.8745671T>C
  • NG_008797.2:g.16862T>C
  • NM_001234.5:c.260T>C
  • NM_033337.2:c.260T>C
  • NP_001225.1:p.Leu87Pro
  • NP_203123.1:p.Leu87Pro
  • LRG_329t1:c.260T>C
  • LRG_329:g.16862T>C
  • LRG_329p1:p.Leu87Pro
  • NC_000003.11:g.8787357T>C
  • P56539:p.Leu87Pro
  • p.(Leu87Pro)
Protein change:
L87P; LEU87PRO
Links:
Leiden Muscular Dystrophy (CAV3): CAV3_00011; UniProtKB: P56539#VAR_016207; OMIM: 601253.0009; dbSNP: rs28936685
NCBI 1000 Genomes Browser:
rs28936685
Molecular consequence:
  • NM_001234.5:c.260T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033337.2:c.260T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
probably has functional consequence

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000045681Leiden Muscular Dystrophy (CAV3)no assertion providednot providedgermlinecuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M.

Ann Neurol. 2003 Apr;53(4):512-20.

PubMed [citation]
PMID:
12666119

Details of each submission

From Leiden Muscular Dystrophy (CAV3), SCV000045681.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 11, 2019

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