RGD:13506432 Rat Genome Database

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Variant: RGD:13506432 -  Homo sapiens

RGD ID: 13506432
RS ID: rs1553196539
ClinVar ID: CV480738
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDC42  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 22,417,945
GRCh38 1 22,091,452
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_047042.2:g.43744G>A
NM_001791.3:c.511G>A
NP_001034891.1:p.Glu171Lys
NC_000001.11:g.22091452G>A
More... 		04/06/2018 missense variant pathogenic|likely pathogenic Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Dysmorphic facial features; Dysmorphic facies; MACROTHROMBOCYTOPENIA AND MENTAL RETARDATION SYNDROME; Neurodevelopmental abnormality; Postnatal growth retardation; Takenouchi-Kosaki syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CDC42
Accession:NM_001039802
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQTIKCVVVGDGAVGKTCLLISYTTNKFPSEYVPTVFDNYAVTVMIGGEPYTLGLFDTAGQEDYDRLRPLSYPQTDVFLV
CFSVVSPSSFENVKEKWVPEITHHCPKTPFLLVGTQIDLRDDPSTIEKLAKNKQKPITPETAEKLARDLKAVKYVECSAL
TQKGLKNVFDKAILAALEPPEPKKSRRCVLL*

Gene Symbol:CDC42
Accession:NM_001791
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQTIKCVVVGDGAVGKTCLLISYTTNKFPSEYVPTVFDNYAVTVMIGGEPYTLGLFDTAGQEDYDRLRPLSYPQTDVFLV
CFSVVSPSSFENVKEKWVPEITHHCPKTPFLLVGTQIDLRDDPSTIEKLAKNKQKPITPETAEKLARDLKAVKYVECSAL
TQKGLKNVFDKAILAALEPPEPKKSRRCVLL*

Gene Symbol:CDC42
Accession:NM_044472
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:29394990  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000577848 CLINVAR
  RCV000607619 CLINVAR
  RCV001291162 CLINVAR
dbSNP (RS) rs1553196539 CLINVAR
MedGen C0424503 CLINVAR
  C1834120 CLINVAR
  C4225222 CLINVAR
NCBI Gene CDC42 CLINVAR
OMIM 116952 CLINVAR
  616737 CLINVAR
OMIM Allele 116952.0006 CLINVAR
SNOMED CT 248200007 CLINVAR