RGD:15139343 Rat Genome Database

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Variant: RGD:15139343 -  Homo sapiens

RGD ID: 15139343
RS ID: rs199589749
ClinVar ID: CV757096
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XRCC1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 44,065,115
GRCh38 19 43,560,963
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.202G>A
NG_033799.1:g.19616G>A
NC_000019.10:g.43560963C>T
NC_000019.9:g.44065115C>T
More... 		05/15/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:XRCC1
Accession:NM_006297
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEIRLRHVVSCSSQDSTHCAENLLKADTYRKWRAAKAGEKTISVVLQLEKEEQIHSVDIGNDGSAFMEVLVGSSAGGAG
EQDYEVLLVTSSFMSPSESRSGSNPNRVRMFGPDKLVRAAAEKRWDRVKIVCSQPYSKDSPFGLSFVRFHSPPDKDEAEA
PSQKVTVTKLGQFRVKEEDESANSLRPGALFFSRINKTSPVTASDPAGPSYAAATLQASSAASSASPVSRAIGSTSKPQE
SPKGKRKLDLNQEEKKTPSKPPAQLSPSVPKRPKLPAPTRTPATAPVPARAQGAVTGKPRGEGTEPRRPRAGPEELGKIL
QGVVVVLSGFQNPFRSELRDKALELGAKYRPDWTRDSTHLICAFANTPKYSQVLGLGGRIVRKEWVLDCHRMRRRLPSQR
YLMAGPGSSSEEDEASHSGGSGDEAPKLPQKQPQTKTKPTQAAGPSSPQKPPTPEETKAASPVLQEDIDIEGVQSEGQDN
GAEDSGDTEDELRRVAEQKEHRLPPGQEENGEDPYAGSTDENTDSEEHQEPPDLPVPELPDFFQGKHFFLYGEFPGDERR
KLIRYVTAFNGELEDYMSDRVQFVITAQEWDPSFEEALMDNPSLAFVRPRWIYSCNEKQKLLPHQLYGVVPQA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000921488 CLINVAR
dbSNP (RS) rs199589749 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene XRCC1 CLINVAR
OMIM 194360 CLINVAR