RGD:15120340 Rat Genome Database

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Variant: RGD:15120340 -  Homo sapiens

RGD ID: 15120340
RS ID: rs1598400558
ClinVar ID: CV785685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD79B  GH-LCR  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 62,007,744
GRCh38 17 63,930,384
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021602.4:c.119-496T>A
NM_000626.4:c.120T>A
NM_001329050.2:c.122-496T>A
NG_042788.1:g.13292A>T
More... 		11/21/2018 intron variant likely benign AGAMMAGLOBULINEMIA 6; AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD79B
Accession:NM_001039933
Location:EXON

Gene Symbol:CD79B
Accession:NM_000626
Location:EXON

Gene Symbol:CD79B
Accession:NM_021602
Location:INTRON

Gene Symbol:CD79B
Accession:NM_001329050
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001421245 CLINVAR
dbSNP (RS) rs1598400558 CLINVAR
MedGen C3150207 CLINVAR
NCBI Gene 106128904 CLINVAR
  CD79B CLINVAR
OMIM 147245 CLINVAR
  612692 CLINVAR