NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) AND Retinal dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Oct 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003888716.1
Allele description [Variation Report for NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)]
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
xylosyltransferase 1 [Homo sapiens]
xylosyltransferase 1 [Homo sapiens]gi|28269693|ref|NP_071449.1|Protein
-
xl11023A01F_1290614 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clon...
xl11023A01F_1290614 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clone xl11023A01 5', mRNA sequencegi|798014383|gnl|dbEST|79642538|gb| 836.1|Nucleotide
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Last Updated: Sep 29, 2024