NM_000180.4(GUCY2D):c.1750-7C>G AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001486153.14
Allele description [Variation Report for NM_000180.4(GUCY2D):c.1750-7C>G]
NM_000180.4(GUCY2D):c.1750-7C>G
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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P-loop containing nucleoside triphosphate hydrolases superfamily protein [Arabid...
P-loop containing nucleoside triphosphate hydrolases superfamily protein [Arabidopsis thaliana]gi|15240788|ref|NP_201564.1|Protein
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Phlda2 pleckstrin homology-like domain, family A, member 2 [Rattus norvegicus]
Phlda2 pleckstrin homology-like domain, family A, member 2 [Rattus norvegicus]Gene ID:293637Gene
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Last Updated: Sep 16, 2024