NM_000311.5(PRNP):c.636G>A (p.Gln212=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002498286.1
Allele description [Variation Report for NM_000311.5(PRNP):c.636G>A (p.Gln212=)]
NM_000311.5(PRNP):c.636G>A (p.Gln212=)
Condition(s)
- Name:
- Inherited Creutzfeldt-Jakob disease
- Synonyms:
- Creutzfeldt-Jakob Disease, Familial
- Identifiers:
- MONDO: MONDO:0007403; MedGen: C0751254; Orphanet: 204; Orphanet: 282166; Orphanet: 454700; OMIM: 123400
- Name:
- Gerstmann-Straussler-Scheinker syndrome (GSD)
- Synonyms:
- GERSTMANN-STRAUSSLER DISEASE; CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS; PRION DEMENTIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007656; MedGen: C0017495; Orphanet: 356; OMIM: 137440
- Name:
- Fatal familial insomnia (FFI)
- Identifiers:
- MONDO: MONDO:0010808; MedGen: C0206042; Orphanet: 466; OMIM: 600072
- Name:
- Huntington disease-like 1 (HDL1)
- Synonyms:
- HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1; HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT; PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES
- Identifiers:
- MONDO: MONDO:0011299; MedGen: C1864112; Orphanet: 157941; OMIM: 603218
-
Photobacterium leiognathi strain lnuch.21.1 proline dehydrogenase (putA) gene, p...
Photobacterium leiognathi strain lnuch.21.1 proline dehydrogenase (putA) gene, partial cds; LumQ (lumQ) gene, complete cds; lux-rib copy 1 operon, complete sequence; and hypothetical multidrug resistance efflux pump gene, partial cdsgi|154124921|gb|EF536335.1|Nucleotide
-
Photobacterium leiognathi lux operon (luxC, luxD, luxA, luxB, luxE, luxG) genes,...
Photobacterium leiognathi lux operon (luxC, luxD, luxA, luxB, luxE, luxG) genes, complete cdsgi|150687|gb|M63594.1|PHRLUXNucleotide
-
txid7955[organism] AND (rufy2[gene symbol] OR (BC134954 OR BC1349... (19)
txid7955[organism] AND (rufy2[gene symbol] OR (BC134954 OR BC134954.* OR BC155635 OR BC155635.* OR AW279704 OR AW279704.* OR AW280634 OR AW280634.* OR GFIL01034253 OR GFIL01034253.* OR BC155635 OR BC155635.* OR BC134954 OR BC134954.* OR XM_005156875 OR XM_005156875.* OR NM_001244919 OR NM_001244919.* OR NM_001105681 OR NM_001105681.*))SearchGEO Profiles
-
Ceratotherium simum simum isolate SDZICR_KB13650 contig049303, whole genome shot...
Ceratotherium simum simum isolate SDZICR_KB13650 contig049303, whole genome shotgun sequencegi|398422076|gb|AKZM01049303.1||gnl AKZM01|contig049303Nucleotide
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Last Updated: Sep 29, 2024