NM_015506.3(MMACHC):c.282C>T (p.Leu94=) AND Methylmalonic acidemia with homocystinuria cblC
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001277241.1
Allele description [Variation Report for NM_015506.3(MMACHC):c.282C>T (p.Leu94=)]
NM_015506.3(MMACHC):c.282C>T (p.Leu94=)
Condition(s)
- Name:
- Methylmalonic acidemia with homocystinuria cblC
- Synonyms:
- Methylmalonic aciduria with homocystinuria cblC type
- Identifiers:
- MedGen: CN239025
-
Balistoides conspicillum voucher DNSC_2018_038A cytochrome oxidase subunit 1 (CO...
Balistoides conspicillum voucher DNSC_2018_038A cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|2722341444|gnl|uoguelph|MINDA044 OI-5P|gb|OR524259.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024