RGD:41407785 Rat Genome Database

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Variant: RGD:41407785 -  Homo sapiens

RGD ID: 41407785
RS ID: rs1932482365
ClinVar ID: CV983642
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR2F  SOX10  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 38,379,785
GRCh38 22 37,983,778
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.Glu3Ter
LRG_271t1:c.7G>T
NM_006941.3:c.7G>T
LRG_271:g.5755G>T
More... 		01/01/2019 intron variant 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: E to K (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPVCIREAVSQVL
SGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERL
RMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPT
PPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGL
GSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQF
DYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP*

Gene Symbol:POLR2F
Accession:NM_021974
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301131
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301129
Location:INTRON

Gene Symbol:POLR2F
Accession:NM_001301130
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 RCV001290164 CLINVAR
dbSNP (RS) rs1932482365 CLINVAR
MedGen C2700405 CLINVAR
NCBI Gene POLR2F CLINVAR
  SOX10 CLINVAR
OMIM 602229 CLINVAR
  604414 CLINVAR
  611584 CLINVAR