RGD:8690204 Rat Genome Database

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Variant: RGD:8690204 -  Homo sapiens

RGD ID: 8690204
RS ID: rs200102433
ClinVar ID: CV140154
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 160,100,205
GRCh38 1 160,130,415
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_6:g.19658C>G
NG_008014.1:g.19658C>G
NC_000001.11:g.160130415C>G
NC_000001.10:g.160100205C>G
More... 		10/26/2022 intron variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ATP1A2
Accession:NM_000702
Location:INTRON

Gene Symbol:ATP1A2
Accession:XM_047421286
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000123761 CLINVAR
  RCV000535333 CLINVAR
  RCV002259665 CLINVAR
  RCV002259666 CLINVAR
  RCV002259667 CLINVAR
  RCV002259668 CLINVAR
dbSNP (RS) rs200102433 CLINVAR
MedGen C0338484 CLINVAR
  C1865322 CLINVAR
  C3549447 CLINVAR
  C5562015 CLINVAR
  C5562017 CLINVAR
  CN169374 CLINVAR
NCBI Gene ATP1A2 CLINVAR
OMIM 104290 CLINVAR
  182340 CLINVAR
  602481 CLINVAR
  619602 CLINVAR
  619605 CLINVAR
SNOMED CT 95656000 CLINVAR