NM_000180.4(GUCY2D):c.3043+11C>T AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001517916.15
Allele description [Variation Report for NM_000180.4(GUCY2D):c.3043+11C>T]
NM_000180.4(GUCY2D):c.3043+11C>T
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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host cell factor 1a [Gymnodraco acuticeps]
host cell factor 1a [Gymnodraco acuticeps]gi|1839588667|ref|XP_034068111.1|Protein
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gastrula zinc finger protein XlCGF57.1-like isoform X1 [Salmo trutta]
gastrula zinc finger protein XlCGF57.1-like isoform X1 [Salmo trutta]gi|1696058096|ref|XP_029578218.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024