NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) AND Hereditary spastic paraplegia 5A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626090.4
Allele description [Variation Report for NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)]
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)
Condition(s)
-
solute carrier family 9 member C1 isoform X9 [Homo sapiens]
solute carrier family 9 member C1 isoform X9 [Homo sapiens]gi|767926486|ref|XP_011511027.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024