NM_001354604.2(MITF):c.1180-14T>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003800182.2
Allele description [Variation Report for NM_001354604.2(MITF):c.1180-14T>C]
NM_001354604.2(MITF):c.1180-14T>C
Condition(s)
- Name:
- Tietz syndrome (TADS)
- Synonyms:
- Albinism-deafness of Tietz; Hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome
- Identifiers:
- MONDO: MONDO:0007077; MedGen: C0391816; Orphanet: 42665; OMIM: 103500
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hypothetical protein, partial [Pseudomonas aeruginosa]
hypothetical protein, partial [Pseudomonas aeruginosa]gi|2288218425|ref|WP_258146122.1|Protein
-
Chain C, Ubiquitin-protein ligase E3A
Chain C, Ubiquitin-protein ligase E3Agi|1812778976|pdb|6TGK|CProtein
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Last Updated: Sep 29, 2024