RGD:13828526 Rat Genome Database

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Variant: RGD:13828526 -  Homo sapiens

RGD ID: 13828526
RS ID: rs1569167607
ClinVar ID: CV535278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR2F  SOX10  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 38,369,734
GRCh38 22 37,973,727
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006941.3:c.1169C>G
LRG_271t1:c.1169C>G
LRG_271:g.15806C>G
NG_007948.1:g.15806C>G
More... 		05/15/2018 intron variant|nonsense pathogenic HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION; WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT; WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT
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: S to S (synonymous)
Amino Acid Position: 390
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPVCIREAVSQVL
SGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERL
RMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPT
PPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGL
GSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQF
DYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP*

Gene Symbol:POLR2F
Accession:NM_001301130
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301131
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301129
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_021974
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000721948 CLINVAR
dbSNP (RS) rs1569167607 CLINVAR
MedGen C2700405 CLINVAR
NCBI Gene POLR2F CLINVAR
  SOX10 CLINVAR
OMIM 602229 CLINVAR
  604414 CLINVAR
  611584 CLINVAR