RGD:8654423 Rat Genome Database

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Variant: RGD:8654423 -  Homo sapiens

RGD ID: 8654423
RS ID: rs75037667
ClinVar ID: CV131934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASEH2A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 12,924,252
GRCh38 19 12,813,438
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_012662.1:g.11825G>A
NC_000019.10:g.12813438G>A
NC_000019.9:g.12924252G>A
NP_006388.2:p.Arg292His
More... 		02/01/2023 missense|missense variant pathogenic|uncertain significance neonatal/infancy none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RNASEH2A
Accession:NM_006397
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSELERDNTGRCRLSSPVPAVCRKEPCVLGVDEAGRGPVLGPMVYAICYCPLPRLADLEALKVADSKTLLESERERLF
AKMEDTDFVGWALDVLSPNLISTSMLGRVKYNLNSLSHDTATGLIQYALDQGVNVTQVFVDTVGMPETYQARLQQSFPGI
EVTVKAKADALYPVVSAASICAKVARDQAVKKWQFVEKLQDLDTDYGSGYPNDPKTKAWLKEHVEPVFGFPQFVRFSWRT
AQTILEKEAEDVIWEDSASENQEGLRKITSYFLNEGSQARPRSSHRYFLEHGLESATSL*
Variant Samples
Additional References at PubMed
PMID:17846997   PMID:28492532   PMID:31529068  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000114342 CLINVAR
  RCV003421991 CLINVAR
dbSNP (RS) rs75037667 CLINVAR
MedGen C1835912 CLINVAR
  C3661900 CLINVAR
NCBI Gene RNASEH2A CLINVAR
OMIM 606034 CLINVAR
  610333 CLINVAR