NM_001377.3(DYNC2H1):c.35T>G (p.Phe12Cys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003073044.2
Allele description [Variation Report for NM_001377.3(DYNC2H1):c.35T>G (p.Phe12Cys)]
NM_001377.3(DYNC2H1):c.35T>G (p.Phe12Cys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Homo sapiens ubiquitin specific peptidase 45 (USP45), transcript variant 6, mRNA
Homo sapiens ubiquitin specific peptidase 45 (USP45), transcript variant 6, mRNAgi|1889442780|ref|NM_001346025.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024