NM_000180.4(GUCY2D):c.1869G>A (p.Thr623=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001400620.7
Allele description [Variation Report for NM_000180.4(GUCY2D):c.1869G>A (p.Thr623=)]
NM_000180.4(GUCY2D):c.1869G>A (p.Thr623=)
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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Apistogramma eunotus mitochondrial partial mRNA for cytochrome b (cytb gene), sp...
Apistogramma eunotus mitochondrial partial mRNA for cytochrome b (cytb gene), specimen voucher 302940gi|1240939471|emb|LT617191.1|Nucleotide
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PREDICTED: Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), tr...
PREDICTED: Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant X1, mRNAgi|2217328610|ref|XM_047444649.1|Nucleotide
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Cervical Cancer by AJCC v8 Stage
Cervical Cancer by AJCC v8 StageMedGen
-
Uterine Carcinosarcoma, Homologous Type
Uterine Carcinosarcoma, Homologous TypeMedGen
-
Cervical adenoid basal carcinoma
Cervical adenoid basal carcinomaMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024