NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp) AND Leber congenital amaurosis 1

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001250834.1

Allele description [Variation Report for NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp)]

NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp)

Gene:
GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp)
HGVS:
  • NC_000017.11:g.8012501C>T
  • NG_009092.1:g.14832C>T
  • NM_000180.4:c.2008C>TMANE SELECT
  • NP_000171.1:p.Arg670Trp
  • NC_000017.10:g.7915819C>T
  • NM_000180.3:c.2008C>T
Protein change:
R670W
Links:
dbSNP: rs931906767
NCBI 1000 Genomes Browser:
rs931906767
Molecular consequence:
  • NM_000180.4:c.2008C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leber congenital amaurosis 1 (LCA1)
Synonyms:
AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426324Laboratory of Genetics in Ophthalmology, Institut Imagine
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes2not providednot providednot providednot providedresearch

Citations

PubMed

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Wang H, Wang X, Zou X, Xu S, Li H, Soens ZT, Wang K, Li Y, Dong F, Chen R, Sui R.

Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3642-55. doi: 10.1167/iovs.14-15972.

PubMed [citation]
PMID:
26047050
PMCID:
PMC4466882

Details of each submission

From Laboratory of Genetics in Ophthalmology, Institut Imagine, SCV001426324.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 6, 2024