RGD:8655196 Rat Genome Database

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Variant: RGD:8655196 -  Homo sapiens

RGD ID: 8655196
RS ID: rs202102042
ClinVar ID: CV132360
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC114827827  NPPA  NPPA-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 11,907,171
GRCh38 1 11,847,114
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_012926.1:g.5670G>A
NC_000001.11:g.11847114C>T
NC_000001.10:g.11907171C>T
NP_006163.1:p.Arg150Gln
More... 		02/10/2023 intron variant|missense variant pathogenic|likely benign|uncertain significance adulthood AllHighlyPenetrant; ATRIAL DILATION AND STANDSTILL; CARDIOMYOPATHY, ATRIAL DILATED, WITH ATRIAL STANDSTILL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPPA
Accession:NM_006172
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFSTTTVSFLLLLAFQLLGQTRANPMYNAVSNADLMDFKNLLDHLEEKMPLEDEVVPPQVLSEPNEEAGAALSPLPEV
PPWTGEVSPAQRDGGALGRGPWDSSDRSALLKSKLRALLTAPRSLRRSSCFGGRMDRIGAQSGLGCNSFLY*

Gene Symbol:NPPA-AS1
Accession:NR_037806
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:6225642   PMID:23275345   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000114740 CLINVAR
  RCV001344090 CLINVAR
  RCV003155074 CLINVAR
dbSNP (RS) rs202102042 CLINVAR
MedGen C2677294 CLINVAR
  C3810401 CLINVAR
  CN169374 CLINVAR
NCBI Gene 114827827 CLINVAR
  NPPA CLINVAR
  NPPA-AS1 CLINVAR
OMIM 108780 CLINVAR
  612201 CLINVAR
  615745 CLINVAR
OMIM Allele 108780.0003 CLINVAR