RGD:15113595 Rat Genome Database

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Variant: RGD:15113595 -  Homo sapiens

RGD ID: 15113595
RS ID: rs199930415
ClinVar ID: CV756023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD79B  GH-LCR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 62,009,607
GRCh38 17 63,932,247
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000626.4:c.15G>A
NM_001039933.3:c.15G>A
NM_001329050.2:c.15G>A
NM_021602.4:c.15G>A
More... 		04/18/2018 synonymous 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: A to A (synonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFTVKMHCYMNSASGNVSWLWK
QEMDENPQQLKLEKGRMEESQNESLATLTIQGIRFEDNGIYFCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKD
GIIMIQTLLIILFIIVPIFLLLDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

Gene Symbol:CD79B
Accession:NM_001329050
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAAEPVPAARSEDRYRNPKGFSTLAQLKQRNTLKDGIIMIQTLLIILFIIVPIFLLLDK
DDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

Gene Symbol:CD79B
Accession:NM_021602
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAEPVPAARSEDRYRNPKGFSTLAQLKQRNTLKDGIIMIQTLLIILFIIVPIFLLLDKD
DSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*

Gene Symbol:CD79B
Accession:NM_000626
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARLALSPVPSHWMVALLLLLSAEPVPAARSEDRYRNPKGSACSRIWQSPRFIARKRGFTVKMHCYMNSASGNVSWLWKQ
EMDENPQQLKLEKGRMEESQNESLATLTIQGIRFEDNGIYFCQQKCNNTSEVYQGCGTELRVMGFSTLAQLKQRNTLKDG
IIMIQTLLIILFIIVPIFLLLDKDDSKAGMEEDHTYEGLDIDQTATYEDIVTLRTGEVKWSVGEHPGQE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001428278 CLINVAR
dbSNP (RS) rs199930415 CLINVAR
MedGen C3150207 CLINVAR
NCBI Gene 106128904 CLINVAR
  CD79B CLINVAR
OMIM 147245 CLINVAR
  612692 CLINVAR