RGD:151736591 Rat Genome Database

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Variant: RGD:151736591 -  Homo sapiens

RGD ID: 151736591
RS ID: rs1437336153
ClinVar ID: CV1466048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCL10  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 85,736,322
GRCh38 1 85,270,639
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1210t1:c.325A>G
NM_001320715.2:c.325A>G
NM_003921.5:c.325A>G
LRG_1210:g.11266A>G
More...
08/31/2021 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: I to V (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLD
TLVESIRREKTQNFLIQKITDEVLKLRNVKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGES
STTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Gene Symbol:BCL10
Accession:NM_001320715
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLD
TLVESIRREKTQNFLIQKITDEVLKLRNVKLEHLKDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSS
LNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Gene Symbol:BCL10
Accession:XM_011542397
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSPQLGSWRCFVRDWRLRFILKSGCLGCSLSLERRLYQVKDPKQWTKNVKLFCIRGLEEAQQLKAQPGIPLALENLRVY
LCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLR
NVKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIF
SSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Gene Symbol:BCL10
Accession:XM_011542399
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQK
ITDEVLKLRNVKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLE
VGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Gene Symbol:BCL10
Accession:XM_011542398
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSPQLGSWRCFVRDWRLRFILKSGCLGCSLSLERRLYQVKDPKQWTKNVKLFCIRGLEEAQQLKAQPGIPLALENLRVY
LCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLR
NVKLEHLKDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDP
GAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002041782 CLINVAR
dbSNP (RS) rs1437336153 CLINVAR
MedGen C4015195 CLINVAR
NCBI Gene BCL10 CLINVAR
OMIM 603517 CLINVAR
  616098 CLINVAR