RGD:13622418 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:13622418 -  Homo sapiens

RGD ID: 13622418
RS ID: rs1555570419
ClinVar ID: CV531094
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD51D  RAD51L3-RFFL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 33,446,174
GRCh38 17 35,119,155
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142571.2:c.100G>A
NP_598332.1:p.Ala34Thr
LRG_516:g.5715G>A
NG_031858.1:g.5715G>A
More... 		12/13/2017 missense variant uncertain significance Breast-ovarian cancer, familial 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAD51D
Accession:NM_133629
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSTDLEEVAQKCGLSYKAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQ
VTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVP
STRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQSATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_001142571
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSTDLEEVAQKCGLSYKTWRAHSSGNLGGLQLPQVPAGRSWSGVRNALK
KAGLGHGGTDGLSLNAFDERGTAVSTSRLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGG
LTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQ
REGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSR
QPTGFQEMVDIGTWGTSEQSATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_002878
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSTDLEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADLYEELKTSTA
ILSTGIGSLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQ
AEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARD
LGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQS
ATLQGDQT*

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000649690 CLINVAR
dbSNP (RS) rs1555570419 CLINVAR
MedGen C3280345 CLINVAR
NCBI Gene 100529207 CLINVAR
  RAD51D CLINVAR
OMIM 602954 CLINVAR
  614291 CLINVAR