U.S. flag

An official website of the United States government

NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) AND Cone-rod dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 1, 2018
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:
RCV000787729.4

Allele description [Variation Report for NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)]

NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
Other names:
NM_206933.4(USH2A):c.3407G>A
HGVS:
  • NC_000001.11:g.216200031C>T
  • NG_009497.2:g.228418G>A
  • NM_007123.6:c.3407G>A
  • NM_206933.4:c.3407G>AMANE SELECT
  • NP_009054.6:p.Ser1136Asn
  • NP_996816.3:p.Ser1136Asn
  • NC_000001.10:g.216373373C>T
  • NG_009497.1:g.228366G>A
  • NM_206933.1:c.3407G>A
  • NM_206933.2:c.3407G>A
  • NM_206933.3(USH2A):c.3407G>A
  • p.Ser1136Asn
Protein change:
S1136N
Links:
dbSNP: rs483353055
NCBI 1000 Genomes Browser:
rs483353055
Molecular consequence:
  • NM_007123.6:c.3407G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.3407G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cone-rod dystrophy
Synonyms:
Cone/cone-rod dystrophy; Cone-rod degeneration
Identifiers:
MONDO: MONDO:0015993; MedGen: C4085590; OMIM: PS120970; Human Phenotype Ontology: HP:0000548

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
SCV000926732Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD
no assertion criteria provided
Likely pathogenic
(Apr 1, 2018) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]
PMID:
30718709
PMCID:
PMC6362094

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet - VeluxRD, SCV000926732.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 15, 2025