NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) AND Deafness, autosomal recessive 18

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2002)

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:
RCV000005455.4

Allele description [Variation Report for NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)]

NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
Other names:
R608P
HGVS:
  • NC_000011.10:g.17509546G>C
  • NG_011883.1:g.39871C>G
  • NG_011883.2:g.39871C>G
  • NM_001297764.2:c.1228-7566C>G
  • NM_005709.4:c.1285-7566C>G
  • NM_153676.4:c.1823C>GMANE SELECT
  • NP_710142.1:p.Pro608Arg
  • NC_000011.9:g.17531093G>C
  • NM_153676.3:c.1823C>G
  • c.1823C>G
Protein change:
P608R; ARG608PRO
Links:
OMIM: 605242.0009; dbSNP: rs41282932
NCBI 1000 Genomes Browser:
rs41282932
Molecular consequence:
  • NM_001297764.2:c.1228-7566C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1285-7566C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.1823C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 18 (DFNB18A)
Synonyms:
Deafness, autosomal recessive 18A
Identifiers:
MONDO: MONDO:0011192; MedGen: C1865870; Orphanet: 90636; OMIM: 602092

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000025637OMIMno assertion criteria providedPathogenic
(Jul 1, 2002)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ.

Hum Genet. 2002 Jul;111(1):26-30. Epub 2002 Jun 18.

PubMed [citation]
PMID:
12136232

Details of each submission

From OMIM, SCV000025637.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 1 of 32 Chinese multiplex families with nonsyndromic recessive deafness without retinitis pigmentosa (DFNB18A; 602092), Ouyang et al. (2002) found a C-to-G transversion in the alternatively spliced exon D of the USH1C gene, predicting an arg608-to-pro (R608P) substitution in the proline-, serine-, and threonine-rich region of harmonin.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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