RGD:150528992 Rat Genome Database

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Variant: RGD:150528992 -  Homo sapiens

RGD ID: 150528992
RS ID: rs2145513607
ClinVar ID: CV1288601
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB11B  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 8,467,435
GRCh38 19 8,402,551
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.8467435A>C
NM_004218.4:c.497A>C
NP_004209.2:p.Lys166Thr
NC_000019.10:g.8402551A>C
 08/01/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RAB11B
Accession:NM_004218
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTRDDEYDYLFKVVLIGDSGVGKSNLLSRFTRNEFNLESKSTIGVEFATRSIQVDGKTIKAQIWDTAGQERYRAITSAY
YRGAVGALLVYDIAKHLTYENVERWLKELRDHADSNIVIMLVGNKSDLRHLRAVPTDEARAFAEKNNLSFIETSALDSTN
VEEAFTNILTEIYRIVSQKQIADRAAHDESPGNNVVDISVPPTTDGQKPNKLQCCQNL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001727069 CLINVAR
dbSNP (RS) rs2145513607 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RAB11B CLINVAR
OMIM 604198 CLINVAR