RGD:156398222 Rat Genome Database

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Variant: RGD:156398222 -  Homo sapiens

RGD ID: 156398222
ClinVar ID: CV2204467
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 135,946,666
GRCh38 9 133,071,279
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001807.6:c.1777G>A
NG_016394.1:g.14302G>A
NC_000009.12:g.133071279G>A
NC_000009.11:g.135946666G>A
More... 		10/12/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CEL
Accession:NM_001807
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 593
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRLQLVVLGLTCCWAVASAAKLGAVYTEGGFVEGVNKKLGLLGDSVDIFKGIPFAAPTKALENPQPHPGWQGTLKAKNF
KKRCLQATITQDSTYGDEDCLYLNIWVPQGRKQVSRDLPVMIWIYGGAFLMGSGHGANFLNNYLYDGEEIATRGNVIVVT
FNYRVGPLGFLSTGDANLPGNYGLRDQHMAIAWVKRNIAAFGGDPNNITLFGESAGGASVSLQTLSPYNKGLIRRAISQS
GVALSPWVIQKNPLFWAKKVAEKVGCPVGDAARMAQCLKVTDPRALTLAYKVPLAGLEYPMLHYVGFVPVIDGDFIPADP
INLYANAADIDYIAGTNNMDGHIFASIDMPAINKGNKKVTEEDFYKLVSEFTITKGLRGAKTTFDVYTESWAQDPSQENK
KKTVVDFETDVLFLVPTEIALAQHRANAKSAKTYAYLFSHPSRMPVYPKWVGADHADDIQYVFGKPFATPTGYRPQDRTV
SKAMIAYWTNFAKTGDPNMGDSAVPTHWEPYTTENSGYLEITKKMGSSSMKRSLRTNFLRYWTLTYLALPTVTDQEATPV
PPTGDSEATPVPPTGDSETAPVPPTGDSGAPPMPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPT
GDSGAPPVPPTGDSGAPPVPPTGDSGAPPVPPTGDAGPPPVPPTGDSGAPPVPPTGDSGAPPVTPTGDSETAPVPPTGDS
GAPPVPPTGDSEAAPVPPTDDSKEAQMPAVIRF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002655461 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CEL CLINVAR
OMIM 114840 CLINVAR