NM_014946.4(SPAST):c.391_392insGGT (p.Ala130_Leu131insArg) AND Hereditary spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001848167.3
Allele description [Variation Report for NM_014946.4(SPAST):c.391_392insGGT (p.Ala130_Leu131insArg)]
NM_014946.4(SPAST):c.391_392insGGT (p.Ala130_Leu131insArg)
Condition(s)
-
Ficedula albicollis isolate OC2 chromosome 18, whole genome shotgun sequence
Ficedula albicollis isolate OC2 chromosome 18, whole genome shotgun sequencegi|514339931|gnl|WGS:AGTO|chr18|gb| 006.1|Nucleotide
-
alpha-xylosidase BoGH31A precursor [Clostridium saccharoperbutylacetonicum]
alpha-xylosidase BoGH31A precursor [Clostridium saccharoperbutylacetonicum]gi|1148335858|gnl|goettingen|CLSAP_ |gb|AQR97328.1|Protein
-
leukocyte-specific transcript 1 protein isoform 2 [Homo sapiens]
leukocyte-specific transcript 1 protein isoform 2 [Homo sapiens]gi|262118324|ref|NP_995309.2|Protein
-
Mus musculus ribonuclease, RNase A family 4 (Rnase4), transcript variant 2, mRNA
Mus musculus ribonuclease, RNase A family 4 (Rnase4), transcript variant 2, mRNAgi|240849125|ref|NM_201239.3|Nucleotide
-
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 [Mus musculu...
galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 [Mus musculus]gi|13195672|ref|NP_077218.1|Protein
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Last Updated: Dec 24, 2023