NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000633040.9
Allele description [Variation Report for NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)]
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
RST42048 Athersys RAGE Library Homo sapiens cDNA, mRNA sequence
RST42048 Athersys RAGE Library Homo sapiens cDNA, mRNA sequencegi|13748211|gnl|dbEST|8180122|gb|BG 5.1|Nucleotide
-
klhl13 kelch-like family member 13 [Danio rerio]
klhl13 kelch-like family member 13 [Danio rerio]Gene ID:323951Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024