rs777266345 Rat Genome Database

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Variant: rs777266345 -  Homo sapiens

RGD ID: 38498419
RS ID: rs777266345
ClinVar ID: CV950134
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD79B  GH-LCR  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 62,006,630
GRCh38 17 63,929,270
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.334G>C
NM_001329050.2:c.337G>C
NM_000626.4:c.646G>C
NM_001039933.3:c.649G>C
More... 		12/16/2022 missense variant uncertain significance 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_000626
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFTVKMHCYMNSASGNVSWLWKQ
EMDENPQQLKLEKGRMEESQNESLATLTIQGIRFEDNGIYFCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKDG
IIMIQTLLIILFIIVPIFLLLDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

Gene Symbol:CD79B
Accession:NM_001039933
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFTVKMHCYMNSASGNVSWLWK
QEMDENPQQLKLEKGRMEESQNESLATLTIQGIRFEDNGIYFCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKD
GIIMIQTLLIILFIIVPIFLLLDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

Gene Symbol:CD79B
Accession:NM_021602
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAEPVPAARSEDRYRNPKGFSTLAQLKQRNTLKDGIIMIQTLLIILFIIVPIFLLLDKD
DSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

Gene Symbol:CD79B
Accession:NM_001329050
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAAEPVPAARSEDRYRNPKGFSTLAQLKQRNTLKDGIIMIQTLLIILFIIVPIFLLLDK
DDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001227745 CLINVAR
  RCV004032613 CLINVAR
dbSNP (RS) rs777266345 CLINVAR
MedGen C3150207 CLINVAR
  CN169374 CLINVAR
NCBI Gene 106128904 CLINVAR
  CD79B CLINVAR
OMIM 147245 CLINVAR
  612692 CLINVAR