RGD:13520159 Rat Genome Database

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Variant: RGD:13520159 -  Homo sapiens

RGD ID: 13520159
RS ID: rs200475773
ClinVar ID: CV490922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR2F  SOX10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 38,373,997
GRCh38 22 37,977,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006941.4:c.574G>A
NP_008872.1:p.Gly192Ser
NC_000022.11:g.37977990C>T
LRG_271t1:c.574G>A
More... 		03/01/2020 intron variant|missense variant conflicting interpretations of pathogenicity|uncertain significance none provided

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

Gene Symbol:SOX10
Accession:NM_006941
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPVCIREAVSQVL
SGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERL
RMQHKKDHPDYKYQPRRRKNGKAAQGEAECPCGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPT
PPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGL
GSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQF
DYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP*

Gene Symbol:POLR2F
Accession:NM_021974
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301130
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301129
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301131
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000598423 CLINVAR
  RCV003935609 CLINVAR
dbSNP (RS) rs200475773 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POLR2F CLINVAR
  SOX10 CLINVAR
OMIM 602229 CLINVAR
  604414 CLINVAR