NM_001370658.1(BTD):c.249+1G>T AND Biotinidase deficiency
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Jun 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000409760.5
Allele description [Variation Report for NM_001370658.1(BTD):c.249+1G>T]
NM_001370658.1(BTD):c.249+1G>T
Condition(s)
-
CD320 [Neomonachus schauinslandi]
CD320 [Neomonachus schauinslandi]Gene ID:110593891Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024