RGD:13704073 Rat Genome Database

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Variant: RGD:13704073 -  Homo sapiens

RGD ID: 13704073
RS ID: rs1373797370
ClinVar ID: CV538265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR2F  SOX10  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 38,374,119
GRCh38 22 37,978,112
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_008872.1:p.Arg151Pro
LRG_271t1:c.452G>C
LRG_271:g.11421G>C
NM_001301130.2:c.294-8042C>G
More... 		11/01/2016 intron variant|missense variant likely pathogenic WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POLR2F
Accession:NM_001363825
Location:3UTRS;INTRON

Gene Symbol:SOX10
Accession:NM_006941
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPVCIREAVSQVL
SGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERL
RMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPT
PPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGL
GSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQF
DYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP*

Gene Symbol:POLR2F
Accession:NM_001301129
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301131
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301130
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_021974
Location:INTRON

Gene Symbol:POLR2F
Accession:NR_125371
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000660282 CLINVAR
dbSNP (RS) rs1373797370 CLINVAR
MedGen C2750452 CLINVAR
NCBI Gene POLR2F CLINVAR
  SOX10 CLINVAR
OMIM 602229 CLINVAR
  604414 CLINVAR
  613266 CLINVAR