NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002513060.4
Allele description [Variation Report for NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)]
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)
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
Assertion and evidence details
Last Updated: Nov 30, 2024