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:
- RCV001486153.15
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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Uncultured bacterium nirS gene for nitrite reductase, partial cds, clone: TBS154
Uncultured bacterium nirS gene for nitrite reductase, partial cds, clone: TBS154gi|255707081|dbj|AB377745.1|Nucleotide
-
Aponogeton[All Fields] AND 1[s_discriminator] (0)
dbGaP
-
neuroligin-1 isoform X6 [Mus musculus]
neuroligin-1 isoform X6 [Mus musculus]gi|1907149412|ref|XP_036018844.1|Protein
-
neuroligin-1 isoform X7 [Mus musculus]
neuroligin-1 isoform X7 [Mus musculus]gi|1907149417|ref|XP_036018845.1|Protein
-
neuroligin-1 isoform X3 [Mus musculus]
neuroligin-1 isoform X3 [Mus musculus]gi|1907149403|ref|XP_036018842.1|Protein
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Last Updated: Oct 26, 2024