RGD:38489346 Rat Genome Database

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Variant: RGD:38489346 -  Homo sapiens

RGD ID: 38489346
RS ID: rs762516714
ClinVar ID: CV950673
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC117038795  RNASEH2A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 12,917,588
GRCh38 19 12,806,774
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_278t1:c.101A>G
NM_006397.3:c.101A>G
LRG_278:g.5161A>G
NG_068122.1:g.1044A>G
More...
08/19/2019 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: D to G (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSELERDNTGRCRLSSPVPAVCRKEPCVLGVGEAGRGPVLGPMVYAICYCPLPRLADLEALKVADSKTLLESERERLF
AKMEDTDFVGWALDVLSPNLISTSMLGRVKYNLNSLSHDTATGLIQYALDQGVNVTQVFVDTVGMPETYQARLQQSFPGI
EVTVKAKADALYPVVSAASICAKVARDQAVKKWQFVEKLQDLDTDYGSGYPNDPKTKAWLKEHVEPVFGFPQFVRFSWRT
AQTILEKEAEDVIWEDSASENQEGLRKITSYFLNEGSQARPRSSHRYFLERGLESATSL*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001238379 CLINVAR
dbSNP (RS) rs762516714 CLINVAR
MedGen C1835912 CLINVAR
NCBI Gene 117038795 CLINVAR
  RNASEH2A CLINVAR
OMIM 606034 CLINVAR
  610333 CLINVAR