RGD:155970968 Rat Genome Database

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Variant: RGD:155970968 -  Homo sapiens

RGD ID: 155970968
ClinVar ID: CV2241638
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM199  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 26,686,387
GRCh38 17 28,359,364
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_152464.3:c.335A>G
NG_046803.1:g.6784A>G
NC_000017.11:g.28359364A>G
NC_000017.10:g.26686387A>G
More... 		08/23/2021 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2241638Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
Gene Symbol:TMEM199
Accession:NM_152464
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSLLAGERLVRALGPGGELEPERLPRKLRAELEAALGKKHKGGDSSSGPQRLVSFRLIRDLHQHLRERDSKLYLHELL
EGSEIYLPEVVKPPRNPELVARLEKIKIQLASEEYKRITRNVTCQDTRHGGTLSDLGKQVRSLKALVITIFNFIVTVVAA
FVCTYLGSQYIFTEMASRVLAALIVASVVGLAELYVMVRAMEGELGEL*
.


Database
Acc Id
Source(s)
ClinVar RCV002776835 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene TMEM199 CLINVAR
OMIM 616815 CLINVAR