RGD:34897443 Rat Genome Database

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Variant: RGD:34897443 -  Homo sapiens

RGD ID: 34897443
RS ID: rs2091605824
ClinVar ID: CV916474
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD51D  RAD51L3-RFFL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 33,433,512
GRCh38 17 35,106,493
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_516t1:c.481-12C>T
NM_133629.3:c.145-12C>T
NM_001142571.2:c.541-12C>T
LRG_516:g.18377C>T
More... 		12/18/2018 intron variant uncertain significance 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_133629
Location:INTRON

Gene Symbol:RAD51D
Accession:NM_001142571
Location:INTRON

Gene Symbol:RAD51D
Accession:NM_002878
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001179172 CLINVAR
dbSNP (RS) rs2091605824 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene 100529207 CLINVAR
  RAD51D CLINVAR
OMIM 602954 CLINVAR
SNOMED CT 699346009 CLINVAR