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NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) AND Autosomal recessive nonsyndromic hearing loss 18B

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 29, 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:
RCV000477895.2

Allele description [Variation Report for NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp)]

NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp)
HGVS:
  • NC_000011.10:g.17570275C>T
  • NG_033191.2:g.27903C>T
  • NM_001277269.2:c.1876C>T
  • NM_001292063.2:c.1840C>TMANE SELECT
  • NP_001264198.1:p.Arg626Trp
  • NP_001264198.1:p.Arg626Trp
  • NP_001278992.1:p.Arg614Trp
  • NC_000011.9:g.17591822C>T
  • NM_001277269.1:c.1876C>T
Protein change:
R614W
Links:
dbSNP: rs201183725
NCBI 1000 Genomes Browser:
rs201183725
Molecular consequence:
  • NM_001277269.2:c.1876C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.1840C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 18B
Synonyms:
Deafness, autosomal recessive 18b
Identifiers:
MONDO: MONDO:0013985; MedGen: C3554163; Orphanet: 90636; OMIM: 614945

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536810Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no assertion criteria provided
Uncertain significance
(Oct 29, 2015) 		paternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536810.1

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

Last Updated: Mar 16, 2024