RGD:152066045 Rat Genome Database

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Variant: RGD:152066045 -  Homo sapiens

RGD ID: 152066045
RS ID: rs764726398
ClinVar ID: CV1565049
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAF  WWOX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 79,245,657
GRCh38 16 79,211,760
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.1209G>A
NM_001291997.2:c.870G>A
NG_011698.1:g.1117107G>A
NC_000016.10:g.79211760G>A
More... 		08/19/2021 synonymous variant likely benign 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
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 403
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHIN
KRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMAR
ASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLV
QLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNA
VHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWAL
SERLIQERLGSQSG*

Gene Symbol:WWOX
Accession:NM_001291997
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHF
AEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLG
KLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQ
QGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWALSERLIQERLGSQSG*

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:XM_017023234
Location:INTRON

Gene Symbol:MAF
Accession:XM_017023233
Location:INTRON

Gene Symbol:MAF
Accession:NM_005360
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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002090934 CLINVAR
dbSNP (RS) rs764726398 CLINVAR
MedGen C3463992 CLINVAR
NCBI Gene MAF CLINVAR
  WWOX CLINVAR
OMIM 177075 CLINVAR
  308350 CLINVAR
  605131 CLINVAR
  614322 CLINVAR