NM_004984.4(KIF5A):c.1294-7C>T AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001078893.7
Allele description [Variation Report for NM_004984.4(KIF5A):c.1294-7C>T]
NM_004984.4(KIF5A):c.1294-7C>T
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
Homo sapiens small nucleolar RNA, C/D box 13I (SNORD13I), small nucleolar RNA
Homo sapiens small nucleolar RNA, C/D box 13I (SNORD13I), small nucleolar RNAgi|1142736596|ref|NR_145747.1|Nucleotide
-
hypothetical protein [Klebsiella phage GML-KpCol1]
hypothetical protein [Klebsiella phage GML-KpCol1]gi|1308002775|gb|AUE22091.1|Protein
-
GUS1 [Saccharomyces cerevisiae]
GUS1 [Saccharomyces cerevisiae]gi|1023943748|gb|KZV10983.1||gnl|WG A|WN66_02140Protein
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See more...Assertion and evidence details
Last Updated: May 7, 2024