NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002928434.2
Allele description [Variation Report for NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)]
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
Condition(s)
-
Mus musculus reticulon 4 (Rtn4), transcript variant 4, mRNA
Mus musculus reticulon 4 (Rtn4), transcript variant 4, mRNAgi|34610205|ref|NM_024226.2|Nucleotide
-
Mus musculus reticulon 4 (Rtn4), transcript variant 2, mRNA
Mus musculus reticulon 4 (Rtn4), transcript variant 2, mRNAgi|34610232|ref|NM_194052.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024