RGD:21072974 Rat Genome Database

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Variant: RGD:21072974 -  Homo sapiens

RGD ID: 21072974
RS ID: rs780006577
ClinVar ID: CV791738
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD51D  RAD51L3-RFFL  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 33,443,969
GRCh38 17 35,116,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001136043.1:p.Ala78Ser
NG_031858.1:g.7920G>T
LRG_516:g.7920G>T
NM_133629.3:c.144+2161G>T
More... 		05/28/2019 intron variant likely benign|uncertain significance Breast and ovarian cancer; Breast-ovarian cancer, familial 4; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAD51D
Accession:NM_001142571
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKTWRAHSSGNLGGLQLPQVPAGRSWSGVRNSLK
KAGLGHGGTDGLSLNAFDERGTAVSTSRLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGG
LTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQ
REGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSR
QPTGFQEMVDIGTWGTSEQSATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_133629
Location:INTRON

Gene Symbol:RAD51D
Accession:NM_002878
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:25741868   PMID:32566746  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000989837 CLINVAR
  RCV001030593 CLINVAR
dbSNP (RS) rs780006577 CLINVAR
MedGen C0677776 CLINVAR
  C3280345 CLINVAR
NCBI Gene 100529207 CLINVAR
  RAD51D CLINVAR
OMIM 602954 CLINVAR
  614291 CLINVAR