RGD:156279357 Rat Genome Database

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Variant: RGD:156279357 -  Homo sapiens

RGD ID: 156279357
ClinVar ID: CV2338307
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UNC13B  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 35,237,822
GRCh38 9 35,237,825
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001387553.1:c.246T>G
NM_001387554.1:c.246T>G
NM_001330653.3:c.393T>G
NM_001371186.2:c.393T>G
More... 		10/22/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:UNC13B
Accession:XM_047422602
Location:EXON

Gene Symbol:UNC13B
Accession:XM_047422603
Location:EXON

Gene Symbol:UNC13B
Accession:XM_047422604
Location:EXON

Gene Symbol:UNC13B
Accession:NM_001371189
Location:EXON

Gene Symbol:UNC13B
Accession:NM_001387551
Location:EXON

Gene Symbol:UNC13B
Accession:NM_001387554
Location:EXON

Gene Symbol:UNC13B
Accession:NM_006377
Location:EXON

Gene Symbol:UNC13B
Accession:NM_001330653
Location:EXON

Gene Symbol:UNC13B
Accession:NM_001387553
Location:EXON

Gene Symbol:UNC13B
Accession:NM_001371186
Location:EXON

Gene Symbol:UNC13B
Accession:NR_170667
Location:EXON;NON-CODING

Gene Symbol:UNC13B
Accession:NM_001371188
Location:INTRON

Gene Symbol:UNC13B
Accession:XM_047422600
Location:INTRON

Gene Symbol:UNC13B
Accession:XM_047422601
Location:INTRON

Gene Symbol:UNC13B
Accession:XM_011517686
Location:INTRON

Gene Symbol:UNC13B
Accession:XM_047422605
Location:INTRON

Gene Symbol:UNC13B
Accession:NM_001387555
Location:INTRON

Gene Symbol:UNC13B
Accession:NM_001371187
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004186361 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene UNC13B CLINVAR
OMIM 605836 CLINVAR