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NM_001145026.1(PTPRQ):c.837T>A (p.Tyr279Ter) AND Deafness, autosomal recessive 84

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:
RCV000144417.1

Allele description

NM_001145026.1(PTPRQ):c.837T>A (p.Tyr279Ter)

Gene:
PTPRQ:protein tyrosine phosphatase, receptor type Q [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q21.31
Genomic location:
Preferred name:
NM_001145026.1(PTPRQ):c.837T>A (p.Tyr279Ter)
HGVS:
  • NC_000012.12:g.80460829T>A
  • NG_034052.1:g.21484T>A
  • NM_001145026.1:c.837T>A
  • NP_001138498.1:p.Tyr279Ter
Protein change:
Y279*
Links:
OMIM: 603317.0001; dbSNP: rs183258549
NCBI 1000 Genomes Browser:
rs183258549
Molecular consequence:
  • NM_001145026.1:c.837T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Deafness, autosomal recessive 84 (DFNB84A)
Synonyms:
DEAFNESS, AUTOSOMAL RECESSIVE 84A; DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION
Identifiers:
MedGen: C3150654; Orphanet: 90636; OMIM: 613391
Age of onset:
Neonatal

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000189472ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providednot providednot provided

Help

Summary from all submissions

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

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000189472.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Feb 17, 2016