U.S. flag

An official website of the United States government

NM_001145026.2(PTPRQ):c.6453+2dup AND Autosomal recessive nonsyndromic hearing loss 84A

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV004790114.1

Allele description [Variation Report for NM_001145026.2(PTPRQ):c.6453+2dup]

NM_001145026.2(PTPRQ):c.6453+2dup

Gene:
PTPRQ:protein tyrosine phosphatase receptor type Q [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q21.31
Genomic location:
Preferred name:
NM_001145026.2(PTPRQ):c.6453+2dup
HGVS:
  • NC_000012.12:g.80669466dup
  • NG_034052.1:g.230121dup
  • NM_001145026.2:c.6453+2dupMANE SELECT
  • NC_000012.11:g.81063245dup
Molecular consequence:
  • NM_001145026.2:c.6453+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 84A
Synonyms:
Deafness, autosomal recessive 84; DEAFNESS, AUTOSOMAL RECESSIVE 84A; DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION
Identifiers:
MONDO: MONDO:0013249; MedGen: C3150654; Orphanet: 90636; OMIM: 613391

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005400658Institute of Human Genetics, University of Wuerzburg
no assertion criteria provided
Pathogenicmaternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedresearch

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV005400658.1

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

Last Updated: Nov 30, 2024