RGD:38484552 Rat Genome Database

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Variant: RGD:38484552 -  Homo sapiens

RGD ID: 38484552
RS ID: rs1264518434
ClinVar ID: CV922163
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCL10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 85,733,633
GRCh38 1 85,267,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1210t1:c.379G>A
NM_001320715.2:c.347-1G>A
NM_003921.5:c.379G>A
LRG_1210:g.13955G>A
More... 		06/17/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCL10
Accession:NM_003921
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLD
TLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPNGATNNLSRSNSDESNFSEKLRASTVMYHPEGES
STTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Gene Symbol:BCL10
Accession:XM_011542399
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQK
ITDEVLKLRNIKLEHLKGLKCSSCEPFPNGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLE
VGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Gene Symbol:BCL10
Accession:XM_011542397
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSPQLGSWRCFVRDWRLRFILKSGCLGCSLSLERRLYQVKDPKQWTKNVKLFCIRGLEEAQQLKAQPGIPLALENLRVY
LCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLR
NIKLEHLKGLKCSSCEPFPNGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIF
SSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Gene Symbol:BCL10
Accession:NM_001320715
Location:INTRON

Gene Symbol:BCL10
Accession:XM_011542398
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001219482 CLINVAR
dbSNP (RS) rs1264518434 CLINVAR
MedGen C4015195 CLINVAR
NCBI Gene BCL10 CLINVAR
OMIM 603517 CLINVAR
  616098 CLINVAR