NM_001243279.3(ACSF3):c.996A>G (p.Ser332=) AND Combined malonic and methylmalonic acidemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003015094.2
Allele description [Variation Report for NM_001243279.3(ACSF3):c.996A>G (p.Ser332=)]
NM_001243279.3(ACSF3):c.996A>G (p.Ser332=)
Condition(s)
-
multiple epidermal growth factor-like domains protein 10 isoform b precursor [Ho...
multiple epidermal growth factor-like domains protein 10 isoform b precursor [Homo sapiens]gi|815890824|ref|NP_001295050.1|Protein
-
CHRNG cholinergic receptor nicotinic gamma subunit [Homo sapiens]
CHRNG cholinergic receptor nicotinic gamma subunit [Homo sapiens]Gene ID:1146Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024