NM_006517.5(SLC16A2):c.1173C>A (p.Val391=) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002613384.3
Allele description [Variation Report for NM_006517.5(SLC16A2):c.1173C>A (p.Val391=)]
NM_006517.5(SLC16A2):c.1173C>A (p.Val391=)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
male antennae 3
male antennae 3biosample
-
AGENCOURT_14903601 NICHD_XGC_Emb8 Xenopus tropicalis cDNA clone IMAGE:6984706 5'...
AGENCOURT_14903601 NICHD_XGC_Emb8 Xenopus tropicalis cDNA clone IMAGE:6984706 5', mRNA sequencegi|33249842|gnl|dbEST|19310327|gb|C 34.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024