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NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Hearing loss, autosomal recessive

Germline classification:
Likely 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:
RCV001291329.9

Allele description [Variation Report for NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)]

NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)

Gene:
GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
Other names:
rs104894396; NM_004004.5(GJB2):c.71G>A(p.Trp24Ter); NM_004004.5(GJB2):c.71G>A
HGVS:
  • NC_000013.11:g.20189511C>T
  • NG_008358.1:g.8465G>A
  • NM_004004.6:c.71G>AMANE SELECT
  • NP_003995.2:p.Trp24Ter
  • LRG_1350t1:c.71G>A
  • LRG_1350:g.8465G>A
  • LRG_1350p1:p.Trp24Ter
  • NC_000013.10:g.20763650C>T
  • NM_004004.5:c.71G>A
  • c.71G>A
  • c.71G>A (p.Trp24*)
  • p.Trp24*
  • p.Trp24X
Protein change:
W24*; TRP24TER
Links:
OMIM: 121011.0003; dbSNP: rs104894396
NCBI 1000 Genomes Browser:
rs104894396
Molecular consequence:
  • NM_004004.6:c.71G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hearing loss, autosomal recessive
Synonyms:
Deafness, autosomal recessive; Autosomal recessive nonsyndromic deafness; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019588; MedGen: C1846647; Orphanet: 90635; Orphanet: 90636; OMIM: 607197; OMIM: PS220290

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001479803University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics., Schrauwen I, Khan SN, Morell RJ, Zafar S, et al.

Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18.

PubMed [citation]
PMID:
30303587
PMCID:
PMC6296877

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001479803.1

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

Last Updated: Oct 26, 2024