RGD:15202637 Rat Genome Database

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Variant: RGD:15202637 -  Homo sapiens

RGD ID: 15202637
RS ID: rs25490
ClinVar ID: CV705078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XRCC1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 44,056,341
GRCh38 19 43,552,189
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006297.3:c.910A>G
NG_033799.1:g.28390A>G
NC_000019.10:g.43552189T>C
NC_000019.9:g.44056341T>C
More... 		03/02/2019 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:XRCC1
Accession:NM_006297
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 304
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEIRLRHVVSCSSQDSTHCAENLLKADTYRKWRAAKAGEKTISVVLQLEKEEQIHSVDIGNDGSAFVEVLVGSSAGGAG
EQDYEVLLVTSSFMSPSESRSGSNPNRVRMFGPDKLVRAAAEKRWDRVKIVCSQPYSKDSPFGLSFVRFHSPPDKDEAEA
PSQKVTVTKLGQFRVKEEDESANSLRPGALFFSRINKTSPVTASDPAGPSYAAATLQASSAASSASPVSRAIGSTSKPQE
SPKGKRKLDLNQEEKKTPSKPPAQLSPSVPKRPKLPAPTRTPATAPVPARAQGAVTGKPRGEGAEPRRPRAGPEELGKIL
QGVVVVLSGFQNPFRSELRDKALELGAKYRPDWTRDSTHLICAFANTPKYSQVLGLGGRIVRKEWVLDCHRMRRRLPSQR
YLMAGPGSSSEEDEASHSGGSGDEAPKLPQKQPQTKTKPTQAAGPSSPQKPPTPEETKAASPVLQEDIDIEGVQSEGQDN
GAEDSGDTEDELRRVAEQKEHRLPPGQEENGEDPYAGSTDENTDSEEHQEPPDLPVPELPDFFQGKHFFLYGEFPGDERR
KLIRYVTAFNGELEDYMSDRVQFVITAQEWDPSFEEALMDNPSLAFVRPRWIYSCNEKQKLLPHQLYGVVPQA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000957979 CLINVAR
  RCV003915957 CLINVAR
dbSNP (RS) rs25490 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene XRCC1 CLINVAR
OMIM 194360 CLINVAR