NM_002905.5(RDH5):c.*148G>T AND Pigmentary retinal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000354965.5
Allele description [Variation Report for NM_002905.5(RDH5):c.*148G>T]
NM_002905.5(RDH5):c.*148G>T
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
-
Homo sapiens par-3 family cell polarity regulator beta (PARD3B), transcript vari...
Homo sapiens par-3 family cell polarity regulator beta (PARD3B), transcript variant 2, mRNAgi|1675178609|ref|NM_152526.6|Nucleotide
-
peripheral-type benzodiazepine receptor-associated protein 1 isoform b [Homo sap...
peripheral-type benzodiazepine receptor-associated protein 1 isoform b [Homo sapiens]gi|171906567|ref|NP_077729.1|Protein
-
SN1 protein, Solanum tuberosum [Supplementary Concept]
SN1 protein, Solanum tuberosum [Supplementary Concept]a peptide from potato that is active against plant pathogens; 255 bp coding for 63 aa containing 12 cystein; GenBank AF014396<br/>Date introduced: February 12, 1999<br/>MeSH
-
MSMAW_RS15645 [Methanosarcina mazei WWM610]
MSMAW_RS15645 [Methanosarcina mazei WWM610]Gene ID:24852717Gene
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Last Updated: Apr 9, 2023