NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000175455.8
Allele description [Variation Report for NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)]
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
putative ATP-dependent DNA ligase [Methylacidiphilum kamchatkense Kam1]
putative ATP-dependent DNA ligase [Methylacidiphilum kamchatkense Kam1]gi|1708319576|gnl|PRJNA432521|kam1_ QDQ41270.1|Protein
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Last Updated: Sep 29, 2024