RGD:13621265 Rat Genome Database

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Variant: RGD:13621265 -  Homo sapiens

RGD ID: 13621265
RS ID: rs1555598971
ClinVar ID: CV531451
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD79B  GH-LCR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 62,007,483
GRCh38 17 63,930,123
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_43:g.7222C>T
NG_007368.1:g.7222C>T
NC_000017.11:g.63930123G>A
NC_000017.10:g.62007483G>A
More... 		12/31/2019 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
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFTVKMHCYMNSASGNVSWLWK
QEMDENPQQLKLEKGRMEESQNESLATLTIQGIRFEDNGIYFCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKD
GIIMIQTLLIILFIIVPIFLLLDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

Gene Symbol:CD79B
Accession:NM_000626
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFTVKMHCYMNSASGNVSWLWKQ
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000648113 CLINVAR
dbSNP (RS) rs1555598971 CLINVAR
MedGen C3150207 CLINVAR
NCBI Gene 106128904 CLINVAR
  CD79B CLINVAR
OMIM 147245 CLINVAR
  612692 CLINVAR