RGD:8621917 Rat Genome Database

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Variant: RGD:8621917 -  Homo sapiens

RGD ID: 8621917
RS ID: rs75718910
ClinVar ID: CV76970
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASEH2A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 12,923,963
GRCh38 19 12,813,149
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.11536G>A
NC_000019.10:g.12813149G>A
NC_000019.9:g.12923963G>A
NP_006388.2:p.Arg236Gln
More... 		02/03/2023 missense|missense variant pathogenic|likely pathogenic|uncertain significance neonatal/infancy Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis
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 Q (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSELERDNTGRCRLSSPVPAVCRKEPCVLGVDEAGRGPVLGPMVYAICYCPLPRLADLEALKVADSKTLLESERERLF
AKMEDTDFVGWALDVLSPNLISTSMLGRVKYNLNSLSHDTATGLIQYALDQGVNVTQVFVDTVGMPETYQARLQQSFPGI
EVTVKAKADALYPVVSAASICAKVARDQAVKKWQFVEKLQDLDTDYGSGYPNDPKTKAWLKEHVEPVFGFPQFVQFSWRT
AQTILEKEAEDVIWEDSASENQEGLRKITSYFLNEGSQARPRSSHRYFLERGLESATSL*
Variant Samples
Additional References at PubMed
PMID:17846997   PMID:21177858   PMID:21454563   PMID:23592335   PMID:24300241   PMID:25604658   PMID:26182405   PMID:27943079   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000056303 CLINVAR
  RCV003155061 CLINVAR
dbSNP (RS) rs75718910 CLINVAR
MedGen C0393591 CLINVAR
  C1835912 CLINVAR
NCBI Gene RNASEH2A CLINVAR
OMIM 606034 CLINVAR
  610333 CLINVAR
OMIM Allele 606034.0003 CLINVAR
SNOMED CT 230312006 CLINVAR