NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe) AND MITF-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003411824.4
Allele description [Variation Report for NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)]
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)
Condition(s)
- Name:
- MITF-related disorder
- Synonyms:
- MITF-related condition
- Identifiers:
-
Homo sapiens atlastin GTPase 2 (ATL2), transcript variant 1, mRNA
Homo sapiens atlastin GTPase 2 (ATL2), transcript variant 1, mRNAgi|1060099236|ref|NM_022374.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024