NM_000533.5(PLP1):c.142_152del (p.Glu48fs) AND Hereditary spastic paraplegia 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002622394.3
Allele description [Variation Report for NM_000533.5(PLP1):c.142_152del (p.Glu48fs)]
NM_000533.5(PLP1):c.142_152del (p.Glu48fs)
Condition(s)
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Haplochromis laparogramma DNA, SINE inserted locus 454, complete sequence, speci...
Haplochromis laparogramma DNA, SINE inserted locus 454, complete sequence, specimen_voucher: TIT-14672gi|427917494|dbj|AB670636.1|Nucleotide
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Haplochromis laparogramma DNA, SINE inserted locus 316, complete sequence, speci...
Haplochromis laparogramma DNA, SINE inserted locus 316, complete sequence, specimen_voucher: TIT-14672gi|427917482|dbj|AB670624.1|Nucleotide
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Leucosoma reevesii isolate SR1 ring finger protein 213 (RNF213) gene, partial cd...
Leucosoma reevesii isolate SR1 ring finger protein 213 (RNF213) gene, partial cdsgi|374708172|gb|HQ916119.1|Nucleotide
-
Leucosoma reevesii isolate SR2 glycosyltransferase (glyt) gene, partial cds
Leucosoma reevesii isolate SR2 glycosyltransferase (glyt) gene, partial cdsgi|374708002|gb|HQ916034.1|Nucleotide
-
DKFZp686A18184_r1 686 (synonym: hlcc3) Homo sapiens cDNA clone DKFZp686A18184 5'...
DKFZp686A18184_r1 686 (synonym: hlcc3) Homo sapiens cDNA clone DKFZp686A18184 5', mRNA sequencegi|31673304|gnl|dbEST|18690855|emb| 041.1|Nucleotide
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Last Updated: Sep 29, 2024