NM_014363.6(SACS):c.1769_1770del (p.Val590fs) AND Spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001389169.7
Allele description [Variation Report for NM_014363.6(SACS):c.1769_1770del (p.Val590fs)]
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
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EST200651 Normalized rat liver, Bento Soares Rattus sp. cDNA clone RLIAH24 3' en...
EST200651 Normalized rat liver, Bento Soares Rattus sp. cDNA clone RLIAH24 3' end, mRNA sequencegi|4132505|gnl|dbEST|2151694|gb|AA9 .1|Nucleotide
-
DA900545 SKMUS2 Homo sapiens cDNA clone SKMUS2009359 5', mRNA sequence
DA900545 SKMUS2 Homo sapiens cDNA clone SKMUS2009359 5', mRNA sequencegi|82133066|gnl|dbEST|33743377|dbj| 545.1|Nucleotide
-
Rattus norvegicus ferritin-H subunit mRNA, complete cds
Rattus norvegicus ferritin-H subunit mRNA, complete cdsgi|1435202|gb|U58829.1|RNU58829Nucleotide
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Last Updated: Sep 16, 2024