RGD:38484205 Rat Genome Database

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Variant: RGD:38484205 -  Homo sapiens

RGD ID: 38484205
RS ID: rs2091776847
ClinVar ID: CV949882
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD51D  RAD51L3-RFFL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 33,445,572
GRCh38 17 35,118,553
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002878.4:c.211C>T
NP_002869.3:p.Leu71Phe
LRG_516t1:c.211C>T
NM_001142571.2:c.144+558C>T
More... 		10/15/2020 intron 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_002878
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADIYEELKTSTA
ILSTGIGSLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQ
AEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARD
LGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQS
ATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_133629
Location:INTRON

Gene Symbol:RAD51D
Accession:NM_001142571
Location:INTRON

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

Gene Symbol:RAD51D
Accession:NR_037711
Location:INTRON;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 RCV001236241 CLINVAR
dbSNP (RS) rs2091776847 CLINVAR
MedGen C3280345 CLINVAR
NCBI Gene 100529207 CLINVAR
  RAD51D CLINVAR
OMIM 602954 CLINVAR
  614291 CLINVAR