RGD:151758457 Rat Genome Database

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Variant: RGD:151758457 -  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



ClinVar Data
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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
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_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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

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