rs878855058 Rat Genome Database

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Variant: rs878855058 -  Homo sapiens

RGD ID: 11347633
RS ID: rs878855058
ClinVar ID: CV238594
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: ALS2  
Reference Nucleotide: CTCT
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 2 202,622,169 - 202,622,173
GRCh38 2 201,757,446 - 201,757,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Prevalence
Trait Synonyms
NC_000002.11:g.202622168_202622171del
NM_020919.4:c.1425_1428del
NM_020919.3:c.1425_1428delAGAG
NP_065970.2:p.Gly477fs
More... 		10/22/2022 frameshift variant pathogenic infancy|neonatal <1 / 1 000 000 Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis; Spastic paralysis, infantile onset ascending
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV238594HumanHereditary Spastic Paralysis, Infantile Onset Ascending  IAGP 8554872ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysisClinVarPMID:11586298 more ...


.
PMID:11586298   PMID:24315819   PMID:25302125   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV000232793 CLINVAR
dbSNP (RS) rs878855058 CLINVAR
MedGen C2931441 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 606352 CLINVAR
  607225 CLINVAR