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NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr) AND Pigmentary retinal dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
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:
RCV001003175.1

Allele description [Variation Report for NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr)]

NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr)

Gene:
RLBP1:retinaldehyde binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_000326.5(RLBP1):c.602T>C (p.Ile201Thr)
HGVS:
  • NC_000015.10:g.89211825A>G
  • NG_008116.1:g.14867T>C
  • NM_000326.5:c.602T>CMANE SELECT
  • NP_000317.1:p.Ile201Thr
  • NC_000015.9:g.89755056A>G
  • NM_000326.4:c.602T>C
Protein change:
I201T
Links:
dbSNP: rs138965708
NCBI 1000 Genomes Browser:
rs138965708
Molecular consequence:
  • NM_000326.5:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pigmentary retinal dystrophy
Synonyms:
Fundus albipunctatus
Identifiers:
MONDO: MONDO:0007639; MedGen: C0311338; Orphanet: 227796; Orphanet: 52427; OMIM: 136880; Human Phenotype Ontology: HP:0030642

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001161251Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Likely pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161251.1

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

Last Updated: Sep 29, 2024