RGD:13501799 Rat Genome Database

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Variant: RGD:13501799 -  Homo sapiens

RGD ID: 13501799
RS ID: rs1555568341
ClinVar ID: CV478460
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD51D  RAD51L3-RFFL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 33,434,091
GRCh38 17 35,107,072
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_516:g.17798C>T
NG_031858.1:g.17798C>T
NC_000017.11:g.35107072G>A
NC_000017.10:g.33434091G>A
More... 		04/22/2016 intron variant likely benign Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAD51D
Accession:NM_001142571
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKTWRAHSSGNLGGLQLPQVPAGRSWSGVRNALK
KAGLGHGGTDGLSLNAFDERGTAVSTSRLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGG
LTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQ
REGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSR
QPTGFQEMVDIGTWGTSEQSATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_002878
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADLYEELKTSTA
ILSTGIGSLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQ
AEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARD
LGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQS
ATLQGDQT*

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

Gene Symbol:RAD51D
Accession:NM_133629
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000574668 CLINVAR
dbSNP (RS) rs1555568341 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene 100529207 CLINVAR
  RAD51D CLINVAR
OMIM 602954 CLINVAR
SNOMED CT 699346009 CLINVAR