NM_000283.4(PDE6B):c.1107+3A>G AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 25, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001073294.4
Allele description [Variation Report for NM_000283.4(PDE6B):c.1107+3A>G]
NM_000283.4(PDE6B):c.1107+3A>G
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
NISC_mn03e09.y1 NICHD_XGC_Ov1 Xenopus laevis cDNA clone IMAGE:5048944 5', mRNA s...
NISC_mn03e09.y1 NICHD_XGC_Ov1 Xenopus laevis cDNA clone IMAGE:5048944 5', mRNA sequencegi|21071545|gnl|dbEST|12428683|gb|B 58.1|Nucleotide
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Cutaneous adenocystic carcinoma
Cutaneous adenocystic carcinomaMedGen
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C0346017[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024