NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) AND Biotinidase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000358739.6
Allele description [Variation Report for NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)]
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)
Condition(s)
-
ethanolamine-phosphate cytidylyltransferase isoform 2 [Homo sapiens]
ethanolamine-phosphate cytidylyltransferase isoform 2 [Homo sapiens]gi|4505651|ref|NP_002852.1|Protein
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Last Updated: Apr 9, 2023