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NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) AND Autosomal recessive nonsyndromic hearing loss 22

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 3, 2015
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:
RCV000477863.2

Allele description [Variation Report for NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)]

NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)

Gene:
OTOA:otoancorin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)
HGVS:
  • NC_000016.10:g.21716941T>C
  • NG_012973.2:g.57809T>C
  • NM_001161683.2:c.1286T>C
  • NM_144672.4:c.1523T>CMANE SELECT
  • NM_170664.3:c.551T>C
  • NP_001155155.1:p.Val429Ala
  • NP_653273.3:p.Val508Ala
  • NP_733764.1:p.Val184Ala
  • NC_000016.9:g.21728262T>C
  • NG_012973.1:g.43428T>C
  • NM_144672.3:c.1523T>C
Protein change:
V184A
Links:
dbSNP: rs138141474
NCBI 1000 Genomes Browser:
rs138141474
Molecular consequence:
  • NM_001161683.2:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144672.4:c.1523T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170664.3:c.551T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 22
Synonyms:
Deafness, autosomal recessive 22
Identifiers:
MONDO: MONDO:0011762; MedGen: C1846896; Orphanet: 90636; OMIM: 607039

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536824Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no assertion criteria provided
Uncertain significance
(Nov 3, 2015) 		maternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536824.1

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

Last Updated: Oct 8, 2024