RGD:156048786 Rat Genome Database

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Variant: RGD:156048786 -  Homo sapiens

RGD ID: 156048786
ClinVar ID: CV1867608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAF  WWOX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 79,245,611
GRCh38 16 79,211,714
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.1163C>T
NM_004916.1:c.696C>T
NM_001291997.2:c.824C>T
NG_011698.1:g.1117061C>T
More... 		01/06/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MAF
Accession:XM_024450279
Location:3UTRS;EXON

Gene Symbol:WWOX
Accession:NM_016373
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHIN
KRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMAR
ASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLV
QLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNA
VHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEVQSEETARTLWAL
SERLIQERLGSQSG*

Gene Symbol:WWOX
Accession:NM_001291997
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHF
AEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLG
KLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQ
QGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEVQSEETARTLWALSERLIQERLGSQSG*

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 Information

Database Acc Id Source(s)
ClinVar RCV002510080 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MAF CLINVAR
  WWOX CLINVAR
OMIM 177075 CLINVAR
  605131 CLINVAR