rs2150868322 Rat Genome Database

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Variant: rs2150868322 -  Homo sapiens

RGD ID: 151758457
RS ID: rs2150868322
ClinVar ID: CV1349841
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAF  WWOX  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 79,245,692
GRCh38 16 79,211,795
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_016373.4:c.1244A>C
NM_001291997.2:c.905A>C
NG_011698.1:g.1117142A>C
NC_000016.10:g.79211795A>C
More... 		12/16/2020 stop lost uncertain significance Autosomal recessive spinocerebellar ataxia 12; Epileptic encephalopathy, early infantile, 1; INFANTILE SPASM SYNDROME, X-LINKED 1; OHTAHARA SYNDROME, X-LINKED; SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY; Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG; West's syndrome; X-Linked Infantile Spasm Syndrome; X-linked infantile spasms
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1349841Humandevelopmental and epileptic encephalopathy 1  IAGP 8554872ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1ClinVarPMID:28492532
Gene Symbol:MAF
Accession:XM_024450279
Location:3UTRS;EXON

Gene Symbol:WWOX
Accession:NM_016373
Location:EXON

Gene Symbol:WWOX
Accession:NM_001291997
Location:EXON

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

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

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

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

Gene Symbol:MAF
Accession:XM_017023234
Location:INTRON

Gene Symbol:MAF
Accession:NM_005360
Location:INTRON

Gene Symbol:MAF
Accession:XM_017023233
Location:INTRON

Gene Symbol:WWOX
Accession:NM_130791
Location:INTRON

Gene Symbol:MAF
Accession:XM_017023235
Location:INTRON

Gene Symbol:MAF
Accession:NM_001031804
Location:INTRON

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

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

.
PMID:28492532  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV001986987 CLINVAR
dbSNP (RS) rs2150868322 CLINVAR
MedGen C3463992 CLINVAR
NCBI Gene MAF CLINVAR
  WWOX CLINVAR
OMIM 177075 CLINVAR
  308350 CLINVAR
  605131 CLINVAR
  614322 CLINVAR
1 to 9 of 9 rows