NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Nov 13, 2015)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000477780.2

Allele description [Variation Report for NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)]

NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)

Gene:
MYH14:myosin heavy chain 14 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)
HGVS:
  • NC_000019.10:g.50278107C>T
  • NG_011645.1:g.79480C>T
  • NM_001077186.2:c.3751C>T
  • NM_001145809.2:c.3850C>TMANE SELECT
  • NM_024729.3:c.3727C>T
  • NP_001070654.1:p.Arg1251Trp
  • NP_001139281.1:p.Arg1284Trp
  • NP_079005.3:p.Arg1243Trp
  • NC_000019.9:g.50781364C>T
Protein change:
R1243W
Links:
dbSNP: rs201515738
NCBI 1000 Genomes Browser:
rs201515738
Molecular consequence:
  • NM_001077186.2:c.3751C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145809.2:c.3850C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024729.3:c.3727C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal dominant 4 (DFNA4A)
Synonyms:
Deafness, autosomal dominant 4A
Identifiers:
MONDO: MONDO:0010915; MedGen: C1833503; Orphanet: 90635; OMIM: 600652
Name:
Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH)
Identifiers:
MONDO: MONDO:0013711; MedGen: C3280556; Orphanet: 397744; OMIM: 614369

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536846Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqno assertion criteria providedUncertain significance
(Nov 13, 2015)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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