RGD:13479519 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:13479519 -  Homo sapiens

RGD ID: 13479519
RS ID: rs1553196119
ClinVar ID: CV442724
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDC42  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 22,413,219
GRCh38 1 22,086,726
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_047042.1:g.39100C>G
NC_000001.11:g.22086726C>G
NC_000001.10:g.22413219C>G
NP_001782.1:p.Gln116Glu
More...
11/06/2017 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CDC42
Accession:NM_001039802
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQTIKCVVVGDGAVGKTCLLISYTTNKFPSEYVPTVFDNYAVTVMIGGEPYTLGLFDTAGQEDYDRLRPLSYPQTDVFLV
CFSVVSPSSFENVKEKWVPEITHHCPKTPFLLVGTEIDLRDDPSTIEKLAKNKQKPITPETAEKLARDLKAVKYVECSAL
TQKGLKNVFDEAILAALEPPEPKKSRRCVLL*

Gene Symbol:CDC42
Accession:NM_001791
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQTIKCVVVGDGAVGKTCLLISYTTNKFPSEYVPTVFDNYAVTVMIGGEPYTLGLFDTAGQEDYDRLRPLSYPQTDVFLV
CFSVVSPSSFENVKEKWVPEITHHCPKTPFLLVGTEIDLRDDPSTIEKLAKNKQKPITPETAEKLARDLKAVKYVECSAL
TQKGLKNVFDEAILAALEPPEPKKSRRCVLL*

Gene Symbol:CDC42
Accession:NM_044472
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQTIKCVVVGDGAVGKTCLLISYTTNKFPSEYVPTVFDNYAVTVMIGGEPYTLGLFDTAGQEDYDRLRPLSYPQTDVFLV
CFSVVSPSSFENVKEKWVPEITHHCPKTPFLLVGTEIDLRDDPSTIEKLAKNKQKPITPETAEKLARDLKAVKYVECSAL
TQRGLKNVFDEAILAALEPPETQPKRKCCIF*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000520976 CLINVAR
dbSNP (RS) rs1553196119 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CDC42 CLINVAR
OMIM 116952 CLINVAR