rs2144758191 Rat Genome Database

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Variant: rs2144758191 -  Homo sapiens

RGD ID: 151714855
RS ID: rs2144758191
ClinVar ID: CV1388777
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD79B  GH-LCR  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 62,007,659
GRCh38 17 63,930,299
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.62007659T>C
NP_001035022.1:p.Ser70Gly
NM_021602.4:c.119-411A>G
NM_001329050.2:c.122-411A>G
More... 		06/13/2022 intron variant uncertain significance 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_000626
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFTVKMHCYMNRASGNVSWLWKQ
EMDENPQQLKLEKGRMEESQNESLATLTIQGIRFEDNGIYFCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKDG
IIMIQTLLIILFIIVPIFLLLDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

Gene Symbol:CD79B
Accession:NM_001039933
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFTVKMHCYMNRASGNVSWLWK
QEMDENPQQLKLEKGRMEESQNESLATLTIQGIRFEDNGIYFCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKD
GIIMIQTLLIILFIIVPIFLLLDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

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 RCV002002730 CLINVAR
dbSNP (RS) rs2144758191 CLINVAR
MedGen C3150207 CLINVAR
NCBI Gene CD79B CLINVAR
  GH-LCR CLINVAR
OMIM 147245 CLINVAR
  612692 CLINVAR