RGD:329353660 Rat Genome Database

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Variant: RGD:329353660 -  Homo sapiens

RGD ID: 329353660
ClinVar ID: CV2467019
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BZW1  LOC127275520  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 201,677,165
GRCh38 2 200,812,442
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321691.2:c.-11+452C>T
NM_001207067.2:c.-11+452C>T
NM_001321693.2:c.-11+452C>T
NM_014670.4:c.-11+452C>T
More... 		03/02/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BZW1
Accession:NM_001321691
Location:5UTRS;INTRON

Gene Symbol:BZW1
Accession:NM_001207067
Location:5UTRS;INTRON

Gene Symbol:BZW1
Accession:NM_001321694
Location:5UTRS;INTRON

Gene Symbol:BZW1
Accession:NM_001321690
Location:5UTRS;INTRON

Gene Symbol:BZW1
Accession:NM_001321693
Location:5UTRS;INTRON

Gene Symbol:BZW1
Accession:NM_014670
Location:5UTRS;INTRON

Gene Symbol:BZW1
Accession:NM_001321688
Location:5UTRS;INTRON

Gene Symbol:BZW1
Accession:NM_001207068
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 12
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYGAPGAPAQSVSVTVVRSLRRPPPQATGVSFMNNQKQQKPTLSGQRFKTRKRDEKERFDPTQFQDCIIQGLTETGTDLE
AVAKFLDASGAKLDYRRYAETLFDILVAGGMLAPGGTLADDMMRTDVCVFAAQEDLETMQAFAQVFNKLIRRYKYLEKGF
EDEVKKLLLFLKGFSESERNKLAMLTGVLLANGTLNASILNSLYNENLVKEGVSAAFAVKLFKSWINEKDINAVAASLRK
VSMDNRLMELFPANKQSVEHFTKYFTEAGLKELSEYVRNQQTIGARKELQKELQEQMSRGDPFKDIILYVKEEMKKNNIP
EPVVIGIVWSSVMSTVEWNKKEELVAEQAIKHLKQYSPLLAAFTTQGQSELTLLLKIQEYCYDNIHFMKAFQKIVVLFYK
AEVLSEEPILKWYKDAHVAKGKSVFLEQMKKFVEWLKNAEEESESEAEEGD*

Gene Symbol:BZW1
Accession:XM_017005393
Location:INTRON

Gene Symbol:BZW1
Accession:NM_001207069
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004282764 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BZW1 CLINVAR
OMIM 619252 CLINVAR