NM_001003722.2(GLE1):c.749C>T (p.Ala250Val) AND Lethal arthrogryposis-anterior horn cell disease syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000367519.5
Allele description [Variation Report for NM_001003722.2(GLE1):c.749C>T (p.Ala250Val)]
NM_001003722.2(GLE1):c.749C>T (p.Ala250Val)
Condition(s)
-
stAR-related lipid transfer protein 8 isoform X5 [Mus musculus]
stAR-related lipid transfer protein 8 isoform X5 [Mus musculus]gi|1720435038|ref|XP_030107186.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Aug 5, 2023