NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002056937.6
Allele description [Variation Report for NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=)]
NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=)
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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JGI_ANHP176.fwd NIH_XGC_tropNeu5 Xenopus tropicalis cDNA clone IMAGE:7516293 5',...
JGI_ANHP176.fwd NIH_XGC_tropNeu5 Xenopus tropicalis cDNA clone IMAGE:7516293 5', mRNA sequencegi|58073342|gnl|dbEST|27381853|gb|C 59.1|Nucleotide
-
DC130172 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus ...
DC130172 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus laevis cDNA clone xl323n21 5', mRNA sequencegi|119077011|gnl|dbEST|43347210|dbj 0172.1|Nucleotide
-
JGI_XZT11227.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone XZT11227 5', mRN...
JGI_XZT11227.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone XZT11227 5', mRNA sequencegi|57036352|gnl|dbEST|26933158|gb|C 94.1|Nucleotide
-
JGI_XZG16601.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7532449 5'...
JGI_XZG16601.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7532449 5', mRNA sequencegi|73753028|gnl|dbEST|31014243|gb|C 48.2|Nucleotide
-
BP673860 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
BP673860 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus laevis cDNA clone XL415a14ex 5', mRNA sequencegi|46021799|gnl|dbEST|22923600|dbj| 860.1|Nucleotide
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Last Updated: Sep 29, 2024