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NM_000180.4(GUCY2D):c.2078_2085del (p.Ala693fs) AND not provided

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:
RCV000084849.1

Allele description [Variation Report for NM_000180.4(GUCY2D):c.2078_2085del (p.Ala693fs)]

NM_000180.4(GUCY2D):c.2078_2085del (p.Ala693fs)

Gene:
GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000180.4(GUCY2D):c.2078_2085del (p.Ala693fs)
HGVS:
  • NC_000017.11:g.8012571_8012578del
  • NG_009092.1:g.14902_14909del
  • NM_000180.4:c.2078_2085delMANE SELECT
  • NP_000171.1:p.Ala693fs
  • NP_000171.1:p.Ala693fs
  • NC_000017.10:g.7915889_7915896del
  • NM_000180.3:c.2078_2085del
Protein change:
A693fs
Links:
dbSNP: rs61750163
NCBI 1000 Genomes Browser:
rs61750163
Molecular consequence:
  • NM_000180.4:c.2078_2085del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000116985Retina International
no classification provided
not providednot providednot provided

Description

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Retina International, SCV000116985.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022