NM_001354604.2(MITF):c.956-17G>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003813368.1
Allele description [Variation Report for NM_001354604.2(MITF):c.956-17G>T]
NM_001354604.2(MITF):c.956-17G>T
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
-
Lotus japonicus strain:Gifu B-129
Lotus japonicus strain:Gifu B-129Ectopic expression of BpbHLH9 in Lotus japonicus hairy rootsBioProject
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Last Updated: Mar 5, 2024