RGD:13470299 Rat Genome Database

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Variant: RGD:13470299 -  Homo sapiens

RGD ID: 13470299
RS ID: rs1555566990
ClinVar ID: CV479140
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAD51D  RAD51L3-RFFL  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 33,428,041
GRCh38 17 35,101,022
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.33428041C>A
NG_031858.1:g.23848G>T
NC_000017.11:g.35101022C>A
LRG_516p1:p.Gln306His
More... 		03/09/2017 missense variant uncertain significance 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: Q to H (nonsynonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKTWRAHSSGNLGGLQLPQVPAGRSWSGVRNALK
KAGLGHGGTDGLSLNAFDERGTAVSTSRLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGG
LTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQ
REGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSR
QPTGFHEMVDIGTWGTSEQSATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_002878
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 306
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADLYEELKTSTA
ILSTGIGSLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQ
AEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARD
LGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFHEMVDIGTWGTSEQS
ATLQGDQT*

Gene Symbol:RAD51D
Accession:NM_133629
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQ
VTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVP
STRILLDTIEGAGASGGRRMACLAKSSRQPTGFHEMVDIGTWGTSEQSATLQGDQT*

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 Information

Database Acc Id Source(s)
ClinVar RCV000563254 CLINVAR
dbSNP (RS) rs1555566990 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene 100529207 CLINVAR
  RAD51D CLINVAR
OMIM 602954 CLINVAR
SNOMED CT 699346009 CLINVAR