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NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln) AND Retinitis pigmentosa

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:
RCV000787824.1

Allele description [Variation Report for NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln)]

NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln)

Gene:
CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q31.3
Genomic location:
Preferred name:
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln)
HGVS:
  • NC_000001.11:g.197421384C>A
  • NG_008483.2:g.224923C>A
  • NM_001193640.2:c.1220C>A
  • NM_001257965.2:c.1349C>A
  • NM_001257966.2:c.1556C>A
  • NM_201253.3:c.1556C>AMANE SELECT
  • NP_001180569.1:p.Pro407Gln
  • NP_001244894.1:p.Pro450Gln
  • NP_001244895.1:p.Pro519Gln
  • NP_957705.1:p.Pro519Gln
  • NC_000001.10:g.197390514C>A
  • NM_201253.2:c.1556C>A
  • NR_047563.2:n.1717C>A
  • NR_047564.2:n.1717C>A
Protein change:
P407Q
Links:
dbSNP: rs1571523755
NCBI 1000 Genomes Browser:
rs1571523755
Molecular consequence:
  • NM_001193640.2:c.1220C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257965.2:c.1349C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001257966.2:c.1556C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201253.3:c.1556C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047563.2:n.1717C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047564.2:n.1717C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000926837Department 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, SCV000926837.2

#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: Sep 3, 2023