RGD:407477074 Rat Genome Database

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Variant: RGD:407477074 -  Homo sapiens

RGD ID: 407477074
ClinVar ID: CV3431136
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DUSP4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 29,197,686
GRCh38 8 29,340,169
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000008.11:g.29340169G>A
NM_057158.4:c.235C>T
NM_001394.7:c.508C>T
NG_074321.1:g.58G>A
More...
05/15/2024 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:DUSP4
Accession:NM_001394
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVTMEELREMDCSVLKRLMNRDENGGGAGGSGSHGTLGLPSGGKCLLLDCRPFLAHSAGYILGSVNVRCNTIVRRRAKGS
VSLEQILPAEEEVRARLRSGLYSAVIVYDERSPRAESLREDSTVSLVVQALRRNAERTDICLLKGGYERFSSEYPEFCSK
TKALAAIPPSVPPSATEPLDLGCSSCGTPLHDQGGPVEILPFLYLGSAYHAARRDMLDALGITALLNVSSDCPNHFEGHY
QYKCIPVEDNHKADISSWFMEAIEYIDAVKDCRGRVLVHCQAGISRSATICLAYLMMKKRVRLEEAFEFVKQRRSIISPN
FSFMGQLLQFESQVLATSCAAEAASPSGPLRERGKTPATPTSQFVFSFPVSVGVHSAPSSLPYLHSPITTSPSC*

Gene Symbol:DUSP4
Accession:NM_057158
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRKVHSNGSQFAEHSRSPRRTGRDCKPVRAPSMALGVSQLAGRSRCLCSESQGGYERFSSEYPEFCSKTKALAAIPPSV
PPSATEPLDLGCSSCGTPLHDQGGPVEILPFLYLGSAYHAARRDMLDALGITALLNVSSDCPNHFEGHYQYKCIPVEDNH
KADISSWFMEAIEYIDAVKDCRGRVLVHCQAGISRSATICLAYLMMKKRVRLEEAFEFVKQRRSIISPNFSFMGQLLQFE
SQVLATSCAAEAASPSGPLRERGKTPATPTSQFVFSFPVSVGVHSAPSSLPYLHSPITTSPSC*

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Database
Acc Id
Source(s)
ClinVar RCV004617207 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DUSP4 CLINVAR
OMIM 602747 CLINVAR