NM_000180.4(GUCY2D):c.2961C>T (p.Gly987=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003785674.1
Allele description
NM_000180.4(GUCY2D):c.2961C>T (p.Gly987=)
Condition(s)
- Name:
- Cone-rod dystrophy 6 (CORD6)
- Synonyms:
- Retinal cone dystrophy 2; Cone dystrophy progressive
- Identifiers:
- MONDO: MONDO:0011143; MedGen: C1866293; Orphanet: 1872; OMIM: 601777
- Name:
- Leber congenital amaurosis 1 (LCA1)
- Synonyms:
- AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000
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zinc finger protein ZAT4 [Brassica napus]
zinc finger protein ZAT4 [Brassica napus]gi|2258225389|ref|XP_013646764.2|Protein
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Homo sapiens SEC31 homolog A, COPII coat complex component (SEC31A), transcript ...
Homo sapiens SEC31 homolog A, COPII coat complex component (SEC31A), transcript variant 33, mRNAgi|2181405645|ref|NM_001400197.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024