NM_173477.5(USH1G):c.832_851del (p.Ser278fs) AND Usher syndrome type 1

Clinical significance:Pathogenic (Last evaluated: May 19, 2016)

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:
RCV000216021.1

Allele description [Variation Report for NM_173477.5(USH1G):c.832_851del (p.Ser278fs)]

NM_173477.5(USH1G):c.832_851del (p.Ser278fs)

Gene:
USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
HGVS:
  • NC_000017.11:g.74919988_74920007del
  • NG_007882.2:g.8260_8279del
  • NG_033062.1:g.714_733del
  • NG_033062.2:g.714_733del
  • NM_001282489.3:c.523_542del
  • NM_173477.5:c.832_851delMANE SELECT
  • NP_001269418.1:p.Ser175fs
  • NP_775748.2:p.Ser278fs
  • LRG_1416t1:c.832_851del
  • LRG_1416:g.8260_8279del
  • LRG_1416p1:p.Ser278fs
  • NC_000017.10:g.72916083_72916102del
  • NM_173477.2:c.832_851del
  • NM_173477.3:c.832_851del20
  • NP_775748.2:p.Ser278ProfsTer71
  • c.828-849del20
Protein change:
S175fs
Links:
OMIM: 607696.0003; dbSNP: rs397515345
NCBI 1000 Genomes Browser:
rs397515345
Molecular consequence:
  • NM_001282489.3:c.523_542del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_173477.5:c.832_851del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Usher syndrome type 1 (USH1)
Synonyms:
Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268763GeneReviewsno assertion criteria providedPathogenic
(May 19, 2016)
germlineliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D.

Hum Genet. 2002 Apr;110(4):348-50. Epub 2002 Mar 12.

PubMed [citation]
PMID:
11941484

Details of each submission

From GeneReviews, SCV000268763.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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