NM_001354604.2(MITF):c.1487C>T (p.Thr496Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002544130.2
Allele description [Variation Report for NM_001354604.2(MITF):c.1487C>T (p.Thr496Ile)]
NM_001354604.2(MITF):c.1487C>T (p.Thr496Ile)
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
-
lysyl oxidase-like 1 [Bos taurus]
lysyl oxidase-like 1 [Bos taurus]gi|16033743|gb|AAL13312.1|AF421185_Protein
-
Andrenidae elongation factor alpha-1 gene, partial cds.
Andrenidae elongation factor alpha-1 gene, partial cds.PopSet: 33324025PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024