NM_198159.2(MITF):c.943C>T (p.Arg315Ter) AND Hearing impairment

Clinical significance:Pathogenic (Last evaluated: Jun 10, 2016)

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:
RCV000414854.1

Allele description

NM_198159.2(MITF):c.943C>T (p.Arg315Ter)

Gene:
MITF:melanocyte inducing transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_198159.2(MITF):c.943C>T (p.Arg315Ter)
HGVS:
  • NC_000003.12:g.69956460C>T
  • NG_011631.1:g.221979C>T
  • NM_000248.3:c.640C>T
  • NM_198159.2:c.943C>T
  • NP_000239.1:p.Arg214Ter
  • NP_937802.1:p.Arg315Ter
  • LRG_776t1:c.640C>T
  • LRG_776:g.221979C>T
  • LRG_776p1:p.Arg214Ter
  • NC_000003.11:g.70005611C>T
Protein change:
R214*; ARG214TER
Links:
OMIM: 156845.0007; dbSNP: rs104893746
NCBI 1000 Genomes Browser:
rs104893746
Molecular consequence:
  • NM_000248.3:c.640C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hearing impairment
Synonyms:
Congenital deafness; Congenital hearing loss; Deafness; See all synonyms [MedGen]
Identifiers:
MedGen: C0018772; Human Phenotype Ontology: HP:0000365

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492552Centre for Mendelian Genomics,University Medical Centre Ljubljanano assertion criteria providedPathogenic
(Jun 10, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000492552.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 18, 2018

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