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NM_152443.3(RDH12):c.806_810del (p.Ala269fs) AND Retinitis pigmentosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2016
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:
RCV000678608.3

Allele description [Variation Report for NM_152443.3(RDH12):c.806_810del (p.Ala269fs)]

NM_152443.3(RDH12):c.806_810del (p.Ala269fs)

Genes:
GPHN:gephyrin [Gene - OMIM - HGNC]
RDH12:retinol dehydrogenase 12 [Gene - OMIM - HGNC]
ZFYVE26:zinc finger FYVE-type containing 26 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q24.1
Genomic location:
Preferred name:
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)
HGVS:
  • NC_000014.9:g.67729338_67729342del
  • NG_008321.1:g.32453_32457del
  • NM_152443.3:c.806_810delMANE SELECT
  • NP_689656.2:p.Ala269fs
  • NC_000014.8:g.68196054_68196058del
  • NC_000014.8:g.68196055_68196059del
  • NM_152443.2:c.806_810delCCCTG
  • NM_152443.3:c.806_810delCCCTGMANE SELECT
Protein change:
A269fs
Links:
OMIM: 608830.0002; dbSNP: rs386834261
NCBI 1000 Genomes Browser:
rs386834261
Molecular consequence:
  • NM_152443.3:c.806_810del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000804693Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
no assertion criteria provided
Pathogenic
(Sep 1, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV000804693.2

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

Last Updated: Oct 20, 2024