NM_001352514.2(HLCS):c.933C>T (p.Ile311=) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003600379.2
Allele description [Variation Report for NM_001352514.2(HLCS):c.933C>T (p.Ile311=)]
NM_001352514.2(HLCS):c.933C>T (p.Ile311=)
Condition(s)
-
hydroxyproline-rich glycoprotein family protein [Arabidopsis thaliana]
hydroxyproline-rich glycoprotein family protein [Arabidopsis thaliana]gi|30685727|ref|NP_180907.2|Protein
-
Homo sapiens cDNA clone IMAGE:4815204
Homo sapiens cDNA clone IMAGE:4815204gi|34194377|gb|BC036593.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024