RGD:14703469 Rat Genome Database

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Variant: RGD:14703469 -  Homo sapiens

RGD ID: 14703469
RS ID: rs773196371
ClinVar ID: CV654954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR2F  SOX10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 38,370,054
GRCh38 22 37,974,047
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.11:g.37974047G>A
p.His283His
NM_006941.4:c.849C>T
NM_001363825.1:c.*38+1737G>A
More... 		01/18/2019 intron variant likely benign|uncertain significance AllHighlyPenetrant

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

Gene Symbol:SOX10
Accession:NM_006941
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPVCIREAVSQVL
SGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERL
RMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPT
PPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISQEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGL
GSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQF
DYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP*

Gene Symbol:POLR2F
Accession:NM_001301130
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301131
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_021974
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301129
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000825243 CLINVAR
dbSNP (RS) rs773196371 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene POLR2F CLINVAR
  SOX10 CLINVAR
OMIM 602229 CLINVAR
  604414 CLINVAR