NM_194248.3(OTOF):c.4873G>A (p.Val1625Met) AND Deafness, autosomal recessive 9

Clinical significance:Benign (Last evaluated: Apr 26, 2011)

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:
RCV000021066.2

Allele description [Variation Report for NM_194248.3(OTOF):c.4873G>A (p.Val1625Met)]

NM_194248.3(OTOF):c.4873G>A (p.Val1625Met)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.4873G>A (p.Val1625Met)
HGVS:
  • NC_000002.12:g.26464956C>T
  • NG_009937.1:g.98743G>A
  • NM_001287489.2:c.4873G>A
  • NM_004802.4:c.2572G>A
  • NM_194248.3:c.4873G>AMANE SELECT
  • NM_194322.3:c.2803G>A
  • NM_194323.3:c.2572G>A
  • NP_001274418.1:p.Val1625Met
  • NP_004793.2:p.Val858Met
  • NP_919224.1:p.Val1625Met
  • NP_919303.1:p.Val935Met
  • NP_919304.1:p.Val858Met
  • NC_000002.11:g.26687824C>T
  • NM_194248.2:c.4873G>A
  • Q9HC10:p.Val1625Met
  • NM_194248.1:c.4874G>A
Protein change:
V1625M
Links:
UniProtKB: Q9HC10#VAR_032238; dbSNP: rs80356579
NCBI 1000 Genomes Browser:
rs80356579
Molecular consequence:
  • NM_001287489.2:c.4873G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004802.4:c.2572G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.4873G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194322.3:c.2803G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194323.3:c.2572G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 9 (DFNB9)
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE; OTOF-Related Deafness
Identifiers:
MONDO: MONDO:0010986; MedGen: C1832828; Orphanet: 90636; OMIM: 601071

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000041722GeneReviewsno assertion criteria providedbenign
(Apr 26, 2011)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000041722.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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