RGD:14728964 Rat Genome Database

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Variant: RGD:14728964 -  Homo sapiens

RGD ID: 14728964
RS ID: rs1002032036
ClinVar ID: CV645822
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD51D  RAD51L3-RFFL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 33,446,584
GRCh38 17 35,119,565
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_037711.2:n.194A>G
NR_037712.2:n.194A>G
NP_002869.3:p.Ile17Val
NG_031858.1:g.5305A>G
More... 		02/24/2020 missense variant conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Breast-ovarian cancer, familial 4; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAD51D
Accession:NM_002878
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMVQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADLYEELKTSTA
ILSTGIGSLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQ
AEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARD
LGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQS
ATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_133629
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMVQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQ
VTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVP
STRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQSATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_001142571
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMVQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKTWRAHSSGNLGGLQLPQVPAGRSWSGVRNALK
KAGLGHGGTDGLSLNAFDERGTAVSTSRLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGG
LTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQ
REGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSR
QPTGFQEMVDIGTWGTSEQSATLQGDQT*

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000816764 CLINVAR
  RCV000986016 CLINVAR
  RCV001183136 CLINVAR
  RCV001816897 CLINVAR
dbSNP (RS) rs1002032036 CLINVAR
MedGen C0027672 CLINVAR
  C3280345 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene 100529207 CLINVAR
  RAD51D CLINVAR
OMIM 602954 CLINVAR
  614291 CLINVAR
SNOMED CT 699346009 CLINVAR