NM_000350.3(ABCA4):c.6729+5_6729+19del AND Retinal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 3, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074704.3
Allele description [Variation Report for NM_000350.3(ABCA4):c.6729+5_6729+19del]
NM_000350.3(ABCA4):c.6729+5_6729+19del
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
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myb/SANT-like DNA-binding domain-containing protein 2 isoform X1 [Mus musculus]
myb/SANT-like DNA-binding domain-containing protein 2 isoform X1 [Mus musculus]gi|568959295|ref|XP_006510293.1|Protein
-
Taxonomy Links for GEO Profiles (Select 132553051) (1)
Taxonomy
-
Taxonomy Links for GEO Profiles (Select 66722469) (2)
Taxonomy
-
H(+)-transporting V0 sector ATPase subunit a [Saccharomyces cerevisiae S288C]
H(+)-transporting V0 sector ATPase subunit a [Saccharomyces cerevisiae S288C]gi|6323699|ref|NP_013770.1|Protein
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Gene Links for GEO Profiles (Select 104969398) (1)
Gene
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Last Updated: Oct 8, 2024