RGD:12791318 Rat Genome Database

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Variant: RGD:12791318 -  Homo sapiens

RGD ID: 12791318
RS ID: rs368161524
ClinVar ID: CV226085
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDC5L  POLR1C  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 44,394,370
GRCh38 6 44,426,633
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.44426633A>G
NC_000006.11:g.44394370A>G
NP_001244.1:p.Lys601Arg
NM_001253.4:c.1802A>G
More... 		missense variant uncertain significance Congenital anomalies of kidney and urinary tract; Congenital anomalies of the kidney and urinary tract
Disease Annotations     Click to see Annotation Detail View
CAKUT  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CDC5L
Accession:NM_001253
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 601
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRIMIKGGVWRNTEDEILKAAVMKYGKNQWSRIASLLHRKSAKQCKARWYEWLDPSIKKTEWSREEEEKLLHLAKLMPT
QWRTIAPIIGRTAAQCLEHYEFLLDKAAQRDNEEETTDDPRKLKPGEIDPNPETKPARPDPIDMDEDELEMLSEARARLA
NTQGKKAKRKAREKQLEEARRLAALQKRRELRAAGIEIQKKRKRKRGVDYNAEIPFEKKPALGFYDTSEENYQALDADFR
KLRQQDLDGELRSEKEGRDRKKDKQHLKRKKESDLPSAILQTSGVSEFTKKRSKLVLPAPQISDAELQEVVKVGQASEIA
RQTAEESGITNSASSTLLSEYNVTNNSVALRTPRTPASQDRILQEAQNLMALTNVDTPLKGGLNTPLHESDFSGVTPQRQ
VVQTPNTVLSTPFRTPSNGAEGLTPRSGTTPKPVINSTPGRTPLRDKLNINPEDGMADYSDPSYVKQMERESREHLRLGL
LGLPAPKNDFEIVLPENAEKELEEREIDDTYIEDAADVDARKQAIRDAERVKEMKRMHKAVQKDLPRPSEVNETILRPLN
VEPPLTDLQKSEELIKKEMITMLHYDLLHHPYEPSGNKKGRTVGFGTNNSEHITYLEHNPYEKFSKEELKKAQDVLVQEM
EVVKQGMSHGELSSEAYNQVWEECYSQVLYLPGQSRYTRANLASKKDRIESLEKRLEINRGHMTTEAKRAAKMEKKMKIL
LGGYQSRAMGLMKQLNDLWDQIEQAHLELRTFEELKKHEDSAIPRRLECLKEDVQRQQEREKELQHRYADLLLEKETLKS
KF*

Gene Symbol:CDC5L
Accession:XM_047419605
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 456
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIYVYICTLTFIQSWIILYGFNEKSAVNLTEISLRLAALQKRRELRAAGIEIQKKRKRKRGVDYNAEIPFEKKPALGFY
DTSEENYQALDADFRKLRQQDLDGELRSEKEGRDRKKDKQHLKRKKESDLPSAILQTSGVSEFTKKRSKLVLPAPQISDA
ELQEVVKVGQASEIARQTAEESGITNSASSTLLSEYNVTNNSVALRTPRTPASQDRILQEAQNLMALTNVDTPLKGGLNT
PLHESDFSGVTPQRQVVQTPNTVLSTPFRTPSNGAEGLTPRSGTTPKPVINSTPGRTPLRDKLNINPEDGMADYSDPSYV
KQMERESREHLRLGLLGLPAPKNDFEIVLPENAEKELEEREIDDTYIEDAADVDARKQAIRDAERVKEMKRMHKAVQKDL
PRPSEVNETILRPLNVEPPLTDLQKSEELIKKEMITMLHYDLLHHPYEPSGNKKGRTVGFGTNNSEHITYLEHNPYEKFS
KEELKKAQDVLVQEMEVVKQGMSHGELSSEAYNQVWEECYSQVLYLPGQSRYTRANLASKKDRIESLEKRLEINRGHMTT
EAKRAAKMEKKMKILLGGYQSRAMGLMKQLNDLWDQIEQAHLELRTFEELKKHEDSAIPRRLECLKEDVQRQQEREKELQ
HRYADLLLEKETLKSKF*

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

Gene Symbol:POLR1C
Accession:XM_047419577
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:27657687  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000416577 CLINVAR
dbSNP (RS) rs368161524 CLINVAR
MedGen C1968949 CLINVAR
NCBI Gene CDC5L CLINVAR
  POLR1C CLINVAR
OMIM 602868 CLINVAR
  610060 CLINVAR