RGD:26897472 Rat Genome Database

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Variant: RGD:26897472 -  Homo sapiens

RGD ID: 26897472
RS ID: rs1321788478
ClinVar ID: CV847304
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASEH2A  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 12,923,930
GRCh38 19 12,813,116
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012662.1:g.11503T>A
LRG_278t1:c.671T>A
NM_006397.3:c.671T>A
LRG_278:g.11503T>A
More... 		09/01/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RNASEH2A
Accession:NM_006397
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSELERDNTGRCRLSSPVPAVCRKEPCVLGVDEAGRGPVLGPMVYAICYCPLPRLADLEALKVADSKTLLESERERLF
AKMEDTDFVGWALDVLSPNLISTSMLGRVKYNLNSLSHDTATGLIQYALDQGVNVTQVFVDTVGMPETYQARLQQSFPGI
EVTVKAKADALYPVVSAASICAKVARDQAVKKWQFVEKLQDLDTDYGSGYPNDPKTKAWLKEHEEPVFGFPQFVRFSWRT
AQTILEKEAEDVIWEDSASENQEGLRKITSYFLNEGSQARPRSSHRYFLERGLESATSL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001048560 CLINVAR
dbSNP (RS) rs1321788478 CLINVAR
MedGen C1835912 CLINVAR
NCBI Gene RNASEH2A CLINVAR
OMIM 606034 CLINVAR
  610333 CLINVAR