NM_000362.5(TIMP3):c.439-12A>G AND Sorsby fundus dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000295500.5
Allele description [Variation Report for NM_000362.5(TIMP3):c.439-12A>G]
NM_000362.5(TIMP3):c.439-12A>G
Condition(s)
- Name:
- Sorsby fundus dystrophy (SFD)
- Synonyms:
- Fundus dystrophy, pseudoinflammatory, of Sorsby; Macular dystrophy, hemorrhagic; Sorsby's pseudoinflammatory macular dystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007640; MedGen: C1850938; Orphanet: 59181; OMIM: 136900
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UI-E-EO1-ajd-d-14-0-UI.s1 UI-E-EO1 Homo sapiens cDNA clone UI-E-EO1-ajd-d-14-0-U...
UI-E-EO1-ajd-d-14-0-UI.s1 UI-E-EO1 Homo sapiens cDNA clone UI-E-EO1-ajd-d-14-0-UI 3', mRNA sequencegi|18993096|gnl|dbEST|11264133|gb|B 00.1|Nucleotide
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Last Updated: Sep 29, 2024