RGD:14723159 Rat Genome Database

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Variant: RGD:14723159 -  Homo sapiens

RGD ID: 14723159
RS ID: rs1597877703
ClinVar ID: CV645821
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD51D  RAD51L3-RFFL  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 33,446,168
GRCh38 17 35,119,149
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.106C>A
NM_133629.3:c.106C>A
LRG_516:g.5721C>A
NG_054719.1:g.2571G>T
More... 		12/18/2018 missense variant uncertain significance Breast-ovarian cancer, familial 4; none provided
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 M (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADMEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADLYEELKTSTA
ILSTGIGSLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQ
AEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARD
LGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQS
ATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_001142571
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADMEEVAQKCGLSYKTWRAHSSGNLGGLQLPQVPAGRSWSGVRNALK
KAGLGHGGTDGLSLNAFDERGTAVSTSRLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGG
LTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQ
REGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSR
QPTGFQEMVDIGTWGTSEQSATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_133629
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADMEEVAQKCGLSYKAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQ
VTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVP
STRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQSATLQGDQT*

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 RCV000814230 CLINVAR
  RCV003127473 CLINVAR
dbSNP (RS) rs1597877703 CLINVAR
MedGen C3280345 CLINVAR
  C3661900 CLINVAR
NCBI Gene 100529207 CLINVAR
  RAD51D CLINVAR
OMIM 602954 CLINVAR
  614291 CLINVAR