RGD:329393890 Rat Genome Database

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Variant: RGD:329393890 -  Homo sapiens

RGD ID: 329393890
ClinVar ID: CV2472189
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMED10  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 75,601,679
GRCh38 14 75,134,976
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_006827.6:c.569G>C
NC_000014.9:g.75134976C>G
NC_000014.8:g.75601679C>G
NM_006827.5:c.569G>C
More... 		03/13/2023 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:TMED10
Accession:NM_006827
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGLSGPPARRGPFPLALLLLFLLGPRLVLAISFHLPINSRKCLREEIHKDLLVTGAYEISDQSGGAGGLRSHLKITDSA
GHILYSKEDATKGKFAFTTEDYDMFEVCFESKGTGRIPDQLVILDMKHGVEAKNYEEIAKVEKLKPLEVELRRLEDLSES
IVNDFAYMKKREEEMRDTNESTNTRVLYFTIFSMFCLIGLATWQVFYLRRFFKAKKLIE*
.


Database
Acc Id
Source(s)
ClinVar RCV004283310 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMED10 CLINVAR
OMIM 605406 CLINVAR