NM_001352514.2(HLCS):c.834T>C (p.Leu278=) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002130592.6
Allele description [Variation Report for NM_001352514.2(HLCS):c.834T>C (p.Leu278=)]
NM_001352514.2(HLCS):c.834T>C (p.Leu278=)
Condition(s)
-
Homo sapiens protein tyrosine phosphatase non-receptor type 6 (PTPN6), transcrip...
Homo sapiens protein tyrosine phosphatase non-receptor type 6 (PTPN6), transcript variant 1, mRNAgi|1519311956|ref|NM_002831.6|Nucleotide
-
Homo sapiens cyclin J-like, mRNA (cDNA clone IMAGE:3944075), complete cds
Homo sapiens cyclin J-like, mRNA (cDNA clone IMAGE:3944075), complete cdsgi|33878239|gb|BC013353.2|Nucleotide
-
Mrpl22 mitochondrial ribosomal protein L22 [Mus musculus]
Mrpl22 mitochondrial ribosomal protein L22 [Mus musculus]Gene ID:216767Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024