NM_001198879.2(ATP5MF-PTCD1):c.193A>G (p.Met65Val) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004418605.1
Allele description [Variation Report for NM_001198879.2(ATP5MF-PTCD1):c.193A>G (p.Met65Val)]
NM_001198879.2(ATP5MF-PTCD1):c.193A>G (p.Met65Val)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens clone H204 N-acetylglucosaminyltransferase III DNA, exon 3
Homo sapiens clone H204 N-acetylglucosaminyltransferase III DNA, exon 3gi|1339914|dbj|D85379.1|HUMNAIIICNucleotide
-
argininosuccinate synthetase [human, Japanese classical citrullinemia patient A8...
argininosuccinate synthetase [human, Japanese classical citrullinemia patient A82, mRNA Partial Mutant, 91 nt]gi|639551|bbm|349388|bbs|155330|gb| 2.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024