RGD:13512469 Rat Genome Database

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Variant: RGD:13512469 -  Homo sapiens

RGD ID: 13512469
RS ID: rs758241019
ClinVar ID: CV484762
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD51D  RAD51L3-RFFL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 33,430,262
GRCh38 17 35,103,243
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_516t1:c.738+11A>G
LRG_516:g.21627A>G
NG_031858.1:g.21627A>G
NC_000017.11:g.35103243T>C
More... 		08/17/2017 intron variant likely benign AllHighlyPenetrant; Breast-ovarian cancer, familial 4; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAD51D
Accession:NM_001142571
Location:INTRON

Gene Symbol:RAD51D
Accession:NM_002878
Location:INTRON

Gene Symbol:RAD51D
Accession:NM_133629
Location:INTRON

Gene Symbol:RAD51L3-RFFL
Accession:NR_037714
Location:INTRON;NON-CODING

Gene Symbol:RAD51D
Accession:NR_037711
Location:INTRON;NON-CODING

Gene Symbol:RAD51D
Accession:NR_037712
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000583792 CLINVAR
  RCV000610697 CLINVAR
  RCV001860100 CLINVAR
dbSNP (RS) rs758241019 CLINVAR
MedGen C0027672 CLINVAR
  C3280345 CLINVAR
  CN169374 CLINVAR
NCBI Gene 100529207 CLINVAR
  RAD51D CLINVAR
OMIM 602954 CLINVAR
  614291 CLINVAR
SNOMED CT 699346009 CLINVAR