NM_006269.2(RP1):c.1234dup (p.Met412fs) AND Retinitis pigmentosa

Clinical significance:Pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000988058.1

Allele description [Variation Report for NM_006269.2(RP1):c.1234dup (p.Met412fs)]

NM_006269.2(RP1):c.1234dup (p.Met412fs)

Gene:
RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8q12.1
Genomic location:
Preferred name:
NM_006269.2(RP1):c.1234dup (p.Met412fs)
HGVS:
  • NC_000008.11:g.54625116dup
  • NG_009840.1:g.14050dup
  • NG_009840.2:g.14050dup
  • NM_001375654.1:c.787+2828dup
  • NM_006269.2:c.1234dupMANE SELECT
  • NP_006260.1:p.Met412fs
  • NC_000008.10:g.55537673_55537674insA
  • NC_000008.10:g.55537676dup
  • NM_006269.1:c.1234dup
Protein change:
M412fs
Links:
dbSNP: rs760283610
NCBI 1000 Genomes Browser:
rs760283610
Molecular consequence:
  • NM_006269.2:c.1234dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001375654.1:c.787+2828dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration; Retinotapetal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000; Human Phenotype Ontology: HP:0000547

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001137623Mendelicscriteria provided, single submitter
Pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001137623.1

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

Last Updated: Oct 7, 2021

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