NM_000180.4(GUCY2D):c.3015C>T (p.Thr1005=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003809503.1
Allele description [Variation Report for NM_000180.4(GUCY2D):c.3015C>T (p.Thr1005=)]
NM_000180.4(GUCY2D):c.3015C>T (p.Thr1005=)
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
-
ABC transporter substrate-binding protein [Sneathiella marina]
ABC transporter substrate-binding protein [Sneathiella marina]gi|2254874777|gnl|PRJNA844166|NBZ79 5|gb|USG61003.1|Protein
-
LOC126592075 [Malus sylvestris]
LOC126592075 [Malus sylvestris]Gene ID:126592075Gene
-
LOC121739589 [Aricia agestis]
LOC121739589 [Aricia agestis]Gene ID:121739589Gene
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See more...Assertion and evidence details
Last Updated: Apr 6, 2024