RGD:329352300 Rat Genome Database

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Variant: RGD:329352300 -  Homo sapiens

RGD ID: 329352300
ClinVar ID: CV2476762
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XRCC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 44,050,798
GRCh38 19 43,546,646
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_006288.2:p.Ala459Thr
NC_000019.10:g.43546646C>T
NC_000019.9:g.44050798C>T
NM_006297.2:c.1375G>A
More... 		03/01/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:XRCC1
Accession:NM_006297
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 459
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEIRLRHVVSCSSQDSTHCAENLLKADTYRKWRAAKAGEKTISVVLQLEKEEQIHSVDIGNDGSAFVEVLVGSSAGGAG
EQDYEVLLVTSSFMSPSESRSGSNPNRVRMFGPDKLVRAAAEKRWDRVKIVCSQPYSKDSPFGLSFVRFHSPPDKDEAEA
PSQKVTVTKLGQFRVKEEDESANSLRPGALFFSRINKTSPVTASDPAGPSYAAATLQASSAASSASPVSRAIGSTSKPQE
SPKGKRKLDLNQEEKKTPSKPPAQLSPSVPKRPKLPAPTRTPATAPVPARAQGAVTGKPRGEGTEPRRPRAGPEELGKIL
QGVVVVLSGFQNPFRSELRDKALELGAKYRPDWTRDSTHLICAFANTPKYSQVLGLGGRIVRKEWVLDCHRMRRRLPSQR
YLMAGPGSSSEEDEASHSGGSGDEAPKLPQKQPQTKTKPTQAAGPSSPQKPPTPEETKTASPVLQEDIDIEGVQSEGQDN
GAEDSGDTEDELRRVAEQKEHRLPPGQEENGEDPYAGSTDENTDSEEHQEPPDLPVPELPDFFQGKHFFLYGEFPGDERR
KLIRYVTAFNGELEDYMSDRVQFVITAQEWDPSFEEALMDNPSLAFVRPRWIYSCNEKQKLLPHQLYGVVPQA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003222994 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene XRCC1 CLINVAR
OMIM 194360 CLINVAR