U.S. flag

An official website of the United States government

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

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000216021.2

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_033062.2: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
  • NG_033062.1:g.714_733del
  • 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000268763GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

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, SCV000268763.2

#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: Jun 17, 2024