RGD:405753194 Rat Genome Database

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Variant: RGD:405753194 -  Homo sapiens

RGD ID: 405753194
ClinVar ID: CV3336216
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM199  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 26,686,401
GRCh38 17 28,359,378
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_152464.3:c.349C>T
NG_046803.1:g.6798C>T
NC_000017.11:g.28359378C>T
NC_000017.10:g.26686401C>T
More... 		03/01/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3336216Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
Gene Symbol:TMEM199
Accession:NM_152464
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSLLAGERLVRALGPGGELEPERLPRKLRAELEAALGKKHKGGDSSSGPQRLVSFRLIRDLHQHLRERDSKLYLHELL
EGSEIYLPEVVKPPRNPELVARLEKIKIQLANEEYKWITRNVTCQDTRHGGTLSDLGKQVRSLKALVITIFNFIVTVVAA
FVCTYLGSQYIFTEMASRVLAALIVASVVGLAELYVMVRAMEGELGEL*
.


Database
Acc Id
Source(s)
ClinVar RCV004467443 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene TMEM199 CLINVAR
OMIM 616815 CLINVAR