rs200839945 Rat Genome Database

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Variant: rs200839945 -  Homo sapiens

RGD ID: 13478460
RS ID: rs200839945
ClinVar ID: CV445623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAF  WWOX  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 79,245,652
GRCh38 16 79,211,755
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_011698.1:g.1117102G>T
NC_000016.10:g.79211755G>T
NC_000016.9:g.79245652G>T
NP_057457.1:p.Glu402Ter
More... 		11/13/2023 nonsense likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Epileptic encephalopathy, early infantile, 28; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV445623Humandevelopmental and epileptic encephalopathy 28  IAGP 8554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28ClinVarPMID:25741868
Gene Symbol:MAF
Accession:XM_024450279
Location:3UTRS;EXON

Gene Symbol:WWOX
Accession:NM_016373
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 402
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHIN
KRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMAR
ASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLV
QLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNA
VHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWAL
S*RLIQERLGSQSG*

Gene Symbol:WWOX
Accession:NM_001291997
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHF
AEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLG
KLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQ
QGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWALS*RLIQERLGSQSG*

Gene Symbol:MAF
Accession:XR_001751902
Location:EXON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957804
Location:EXON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957803
Location:EXON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957802
Location:EXON;NON-CODING

Gene Symbol:WWOX
Accession:NM_130791
Location:INTRON

Gene Symbol:MAF
Accession:NM_005360
Location:INTRON

Gene Symbol:MAF
Accession:NM_001031804
Location:INTRON

Gene Symbol:MAF
Accession:XM_017023234
Location:INTRON

Gene Symbol:MAF
Accession:XM_017023235
Location:INTRON

Gene Symbol:MAF
Accession:XM_017023233
Location:INTRON

Gene Symbol:WWOX
Accession:NR_120436
Location:INTRON;NON-CODING

Gene Symbol:WWOX
Accession:NR_120435
Location:INTRON;NON-CODING

.
PMID:25741868  



1 to 10 of 10 rows
Database
Acc Id
Source(s)
ClinVar RCV000520674 CLINVAR
  RCV003338633 CLINVAR
dbSNP (RS) rs200839945 CLINVAR
MedGen C3661900 CLINVAR
  C4015519 CLINVAR
NCBI Gene MAF CLINVAR
  WWOX CLINVAR
OMIM 177075 CLINVAR
  605131 CLINVAR
  616211 CLINVAR
1 to 10 of 10 rows