rs200126941 Rat Genome Database

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Variant: rs200126941 -  Homo sapiens

RGD ID: 8687144
RS ID: rs200126941
ClinVar ID: CV137577
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD79B  GH-LCR  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 62,007,646
GRCh38 17 63,930,286
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_43:g.7059A>C
NG_007368.1:g.7059A>C
NC_000017.11:g.63930286T>G
NC_000017.10:g.62007646T>G
More... 		08/22/2018 intron variant|missense variant uncertain significance|not provided AGAMMAGLOBULINEMIA 6; AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT; AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD79B
Accession:NM_001039933
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFTVKMHCYMNSASGTVSWLWK
QEMDENPQQLKLEKGRMEESQNESLATLTIQGIRFEDNGIYFCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKD
GIIMIQTLLIILFIIVPIFLLLDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

Gene Symbol:CD79B
Accession:NM_000626
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFTVKMHCYMNSASGTVSWLWKQ
EMDENPQQLKLEKGRMEESQNESLATLTIQGIRFEDNGIYFCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKDG
IIMIQTLLIILFIIVPIFLLLDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

Gene Symbol:CD79B
Accession:NM_021602
Location:INTRON

Gene Symbol:CD79B
Accession:NM_001329050
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24728327   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000120490 CLINVAR
  RCV000792433 CLINVAR
dbSNP (RS) rs200126941 CLINVAR
MedGen C3150207 CLINVAR
  CN169374 CLINVAR
NCBI Gene 106128904 CLINVAR
  CD79B CLINVAR
OMIM 147245 CLINVAR
  612692 CLINVAR