NM_000362.5(TIMP3):c.*3233T>A AND Sorsby fundus 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:
- RCV000332631.5
Allele description [Variation Report for NM_000362.5(TIMP3):c.*3233T>A]
NM_000362.5(TIMP3):c.*3233T>A
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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histone-lysine N-methyltransferase 2C isoform X8 [Dromiciops gliroides]
histone-lysine N-methyltransferase 2C isoform X8 [Dromiciops gliroides]gi|2102758568|ref|XP_043822815.1|Protein
-
histone-lysine N-methyltransferase 2C isoform X5 [Dromiciops gliroides]
histone-lysine N-methyltransferase 2C isoform X5 [Dromiciops gliroides]gi|2102758552|ref|XP_043822811.1|Protein
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UI-H-DH0-auo-a-15-0-UI.s1 NCI_CGAP_DH0 Homo sapiens cDNA clone IMAGE:5872022 3',...
UI-H-DH0-auo-a-15-0-UI.s1 NCI_CGAP_DH0 Homo sapiens cDNA clone IMAGE:5872022 3', mRNA sequencegi|19721564|gnl|dbEST|11837099|gb|B 63.1|Nucleotide
-
androgen receptor alpha, partial [Xenopus laevis]
androgen receptor alpha, partial [Xenopus laevis]gi|985559299|gb|AMD10842.1|Protein
-
Amanita ravenelii voucher S.D. Russell MycoMap # 530 sequence
Amanita ravenelii voucher S.D. Russell MycoMap # 530 sequencegi|1789883416|gb|MN906197.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024