rs1673192650 Rat Genome Database

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Variant: rs1673192650 -  Homo sapiens

RGD ID: 40887531
RS ID: rs1673192650
ClinVar ID: CV973175
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR26  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 224,581,696
GRCh38 1 224,393,994
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_025160.7:c.1794G>A
NM_001115113.3:c.1746G>A
NP_001108585.2:p.Trp582Ter
NP_079436.4:p.Trp598Ter
More... 		11/19/2018 nonsense pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WDR26
Accession:NM_025160
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 598
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQANGAGGGGGGGGGGGGGGGGGGGQGQTPELACLSAQNGESSPSSSSSAGDLAHANGLLPSAPSAASNNSNSLNVNNGV
PGGAAAASSATVAAASATTAASSSLATPELGSSLKKKKRLSQSDEDVIRLIGQHLNGLGLNQTVDLLMQESGCRLEHPSA
TKFRNHVMEGDWDKAENDLNELKPLVHSPHAIVVRGALEISQTLLGIIVRMKFLLLQQKYLEYLEDGKVLEALQVLRCEL
TPLKYNTERIHVLSGYLMCSHAEDLRAKAEWEGKGTASRSKLLDKLQTYLPPSVMLPPRRLQTLLRQAVELQRDRCLYHN
TKLDNNLDSVSLLIDHVCSRRQFPCYTQQILTEHCNEVWFCKFSNDGTKLATGSKDTTVIIWQVDPDTHLLKLLKTLEGH
AYGVSYIAWSPDDNYLVACGPDDCSELWLWNVQTGELRTKMSQSHEDSLTSVAWNPDGKRFVTGGQRGQFYQCDLDGNLL
DSWEGVRVQCLWCLSDGKTVLASDTHQRIRGYNFEDLTDRNIVQEDHPIMSFTISKNGRLALLNVATQGVHLWDLQDRVL
VRKYQGVTQGFYTIHSCFGGHNEDFIASGSEDHKVYI*HKRSELPIAELTGHTRTVNCVSWNPQIPSMMASASDDGTVRI
WGPAPFIDHQNIEEECSSMDS*

Gene Symbol:WDR26
Accession:NM_001115113
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 582
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQANGAGGGGGGGGGGGGGGGGGGGQGQTPELACLSAQNGESSPSSSSSAGDLAHANGLLPSAPSAASNNSNSLNVNNGV
PGGAAAASSATVAAASATTAASSSLATPELGSSLKKKKRLSQSDEDVIRLIGQHLNGLGLNQTVDLLMQESGCRLEHPSA
TKFRNHVMEGDWDKAENDLNELKPLVHSPHAIVRMKFLLLQQKYLEYLEDGKVLEALQVLRCELTPLKYNTERIHVLSGY
LMCSHAEDLRAKAEWEGKGTASRSKLLDKLQTYLPPSVMLPPRRLQTLLRQAVELQRDRCLYHNTKLDNNLDSVSLLIDH
VCSRRQFPCYTQQILTEHCNEVWFCKFSNDGTKLATGSKDTTVIIWQVDPDTHLLKLLKTLEGHAYGVSYIAWSPDDNYL
VACGPDDCSELWLWNVQTGELRTKMSQSHEDSLTSVAWNPDGKRFVTGGQRGQFYQCDLDGNLLDSWEGVRVQCLWCLSD
GKTVLASDTHQRIRGYNFEDLTDRNIVQEDHPIMSFTISKNGRLALLNVATQGVHLWDLQDRVLVRKYQGVTQGFYTIHS
CFGGHNEDFIASGSEDHKVYI*HKRSELPIAELTGHTRTVNCVSWNPQIPSMMASASDDGTVRIWGPAPFIDHQNIEEEC
SSMDS*

Gene Symbol:WDR26
Accession:NM_001379403
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 698
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TASLGEETLASASSSSDSDTGGASPPPRKKPRASAAEGVGEPGASAGRAGLSPPSSSSSSSSSSSSSVVVVVGLPPAAAP
PAAAAVPHRSSGHSLVSGSIMQANGAGGGGGGGGGGGGGGGGGGGQGQTPELACLSAQNGESSPSSSSSAGDLAHANGLL
PSAPSAASNNSNSLNVNNGVPGGAAAASSATVAAASATTAASSSLATPELGSSLKKKKRLSQSDEDVIRLIGQHLNGLGL
NQTVDLLMQESGCRLEHPSATKFRNHVMEGDWDKAENDLNELKPLVHSPHAIVVRGALEISQTLLGIIVRMKFLLLQQKY
LEYLEDGKVLEALQVLRCELTPLKYNTERIHVLSGYLMCSHAEDLRAKAEWEGKGTASRSKLLDKLQTYLPPSVMLPPRR
LQTLLRQAVELQRDRCLYHNTKLDNNLDSVSLLIDHVCSRRQFPCYTQQILTEHCNEVWFCKFSNDGTKLATGSKDTTVI
IWQVDPDTHLLKLLKTLEGHAYGVSYIAWSPDDNYLVACGPDDCSELWLWNVQTGELRTKMSQSHEDSLTSVAWNPDGKR
FVTGGQRGQFYQCDLDGNLLDSWEGVRVQCLWCLSDGKTVLASDTHQRIRGYNFEDLTDRNIVQEDHPIMSFTISKNGRL
ALLNVATQGVHLWDLQDRVLVRKYQGVTQGFYTIHSCFGGHNEDFIASGSEDHKVYI*HKRSELPIAELTGHTRTVNCVS
WNPQIPSMMASASDDGTVRIWGPAPFIDHQNIEEECSSMDS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001267154 CLINVAR
dbSNP (RS) rs1673192650 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene WDR26 CLINVAR
OMIM 617424 CLINVAR