RGD:127292239 Rat Genome Database

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Variant: RGD:127292239 -  Homo sapiens

RGD ID: 127292239
RS ID: rs759056975
ClinVar ID: CV1110854
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCL10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 85,733,652
GRCh38 1 85,267,969
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1210t1:c.360C>T
NM_001320715.2:c.347-20C>T
NM_003921.5:c.360C>T
LRG_1210:g.13936C>T
More... 		03/10/2020 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCL10
Accession:XM_011542397
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSPQLGSWRCFVRDWRLRFILKSGCLGCSLSLERRLYQVKDPKQWTKNVKLFCIRGLEEAQQLKAQPGIPLALENLRVY
LCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQKITDEVLKLR
NIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLEVGRTENTIF
SSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Gene Symbol:BCL10
Accession:NM_003921
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPTAPSLTEEDLTEVKKDALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLD
TLVESIRREKTQNFLIQKITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGES
STTPFFSTNSSLNLPVLEVGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Gene Symbol:BCL10
Accession:XM_011542399
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALENLRVYLCEKIIAERHFDHLRAKKILSREDTEEISCRTSSRKRAGKLLDYLQENPKGLDTLVESIRREKTQNFLIQK
ITDEVLKLRNIKLEHLKGLKCSSCEPFPDGATNNLSRSNSDESNFSEKLRASTVMYHPEGESSTTPFFSTNSSLNLPVLE
VGRTENTIFSSTTLPRPGDPGAPPLPPDLQLEEEGTCANSSEMFLPLRSRTVSRQ*

Gene Symbol:BCL10
Accession:XM_011542398
Location:INTRON

Gene Symbol:BCL10
Accession:NM_001320715
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001451724 CLINVAR
dbSNP (RS) rs759056975 CLINVAR
MedGen C4015195 CLINVAR
NCBI Gene BCL10 CLINVAR
OMIM 603517 CLINVAR
  616098 CLINVAR