RGD:8611499 Rat Genome Database

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Variant: RGD:8611499 -  Homo sapiens

RGD ID: 8611499
RS ID: rs387907352
ClinVar ID: CV57810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CARD11  CARD11-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 2,984,163
GRCh38 7 2,944,529
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027759.1:g.104347G>A
NC_000007.14:g.2944529C>T
NC_000007.13:g.2984163C>T
NM_032415.4:c.367G>A
More...
11/27/2019 missense|missense variant pathogenic Asthma; B-cell expansion with NFKB and T-cell anergy; BENTA disease; Enlarged Spleen; Immunodeficiency 11; IMMUNODEFICIENCY 11A; none provided; Splenomegaly
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Asthma  (IAGP)
Osteopenia  (IAGP)
Splenomegaly  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:CARD11
Accession:NM_032415
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPEMDDYMETLKDEEDALWENVECNRHMLSRYINPAKLTPYLRQCKVIDEQDEDEVLNAPMLPSKINRAGRLLDIL
HTKGQRGYVVFLESLEFYYPELYKLVTGKEPTRRFSTIVVEESHEGLTHFLMNEVIKLQQQMKAKDLQRCELLARLRQLE
DEKKQMTLTRVELLTFQERYYKMKEERDSYNDELVKVKDDNYNLAMRYAQLSEEKNMAVMRSRDLQLEIDQLKHRLNKME
EECKLERNQSLKLKNDIENRPKKEQVLELERENEMLKTKNQELQSIIQAGKRSLPDSDKAILDILEHDRKEALEDRQELV
NRIYNLQEEARQAEELRDKYLEEKEDLELKCSTLGKDCEMYKHRMNTVMLQLEEVERERDQAFHSRDEAQTQYSQCLIEK
DKYRKQIRELEEKNDEMRIEMVRREACIVNLESKLRRLSKDSNNLDQSLPRNLPVTIISQDFGDASPRTNGQEADDSSTS
EESPEDSKYFLPYHPPQRRMNLKGIQLQRAKSPISLKRTSDFQAKGHEEEGTDASPSSCGSLPITNSFTKMQPPRSRSSI
MSITAEPPGNDSIVRRYKEDAPHRSTVEEDNDSGGFDALDLDDDSHERYSFGPSSIHSSSSSHQSEGLDAYDLEQVNLMF
RKFSLERPFRPSVTSVGHVRGPGPSVQHTTLNGDSLTSQLTLLGGNARGSFVHSVKPGSLAEKAGLREGHQLLLLEGCIR
GERQSVPLDTCTKEEAHWTIQRCSGPVTLHYKVNHEGYRKLVKDMEDGLITSGDSFYIRLNLNISSQLDACTMSLKCDDV
VHVRDTMYQDRHEWLCARVDPFTDHDLDMGTIPSYSRAQQLLLVKLQRLMHRGSREEVDGTHHTLRALRNTLQPEEALST
SDPRVSPRLSRASFLFGQLLQFVSRSENKYKRMNSNERVRIISGSPLGSLARSSLDATKLLTEKQEELDPESELGKNLSL
IPYSLVRAFYCERRRPVLFTPTVLAKTLVQRLLNSGGAMEFTICKSDIVTRDEFLRRQKTETIIYSREKNPNAFECIAPA
NIEAVAAKNKHCLLEAGIGCTRDLIKSNIYPIVLFIRVCEKNIKRFRKLLPRPETEEEFLRVCRLKEKELEALPCLYATV
EPDMWGSVEELLRVVKDKIGEEQRKTIWVDEDQL*

Gene Symbol:CARD11
Accession:NM_001324281
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPEMDDYMETLKDEEDALWENVECNRHMLSRYINPAKLTPYLRQCKVIDEQDEDEVLNAPMLPSKINRAGRLLDIL
HTKGQRGYVVFLESLEFYYPELYKLVTGKEPTRRFSTIVVEESHEGLTHFLMNEVIKLQQQMKAKDLQRCELLARLRQLE
DEKKQMTLTRVELLTFQERYYKMKEERDSYNDELVKVKDDNYNLAMRYAQLSEEKNMAVMRSRDLQLEIDQLKHRLNKME
EECKLERNQSLKLKNDIENRPKKEQVLELERENEMLKTKNQELQSIIQAGKRSLPDSDKAILDILEHDRKEALEDRQELV
NRIYNLQEEARQAEELRDKYLEEKEDLELKCSTLGKDCEMYKHRMNTVMLQLEEVERERDQAFHSRDEAQTQYSQCLIEK
DKYRKQIRELEEKNDEMRIEMVRREACIVNLESKLRRLSKDSNNLDQSLPRNLPVTIISQDFGDASPRTNGQEADDSSTS
EESPEDSKYFLPYHPPQRRMNLKGIQLQRAKSPISLKRTSDFQAKGHEEEGTDASPSSCGSLPITNSFTKMQPPRSRSSI
MSITAEPPGNDSIVRRYKEDAPHRSTVEEDNDSGGFDALDLDDDSHERYSFGPSSIHSSSSSHQSEGLDAYDLEQVNLMF
RKFSLERPFRPSVTSVGHVRGPGPSVQHTTLNGDSLTSQLTLLGGNARGSFVHSVKPGSLAEKAGLREGHQLLLLEGCIR
GERQSVPLDTCTKEEAHWTIQRCSGPVTLHYKVNHEGYRKLVKDMEDGLITSGDSFYIRLNLNISSQLDACTMSLKCDDV
VHVRDTMYQDRHEWLCARVDPFTDHDLDMGTIPSYSRAQQLLLVKLQRLMHRGSREEVDGTHHTLRALRNTLQPEEALST
SDPRVSPRLSRASFLFGQLLQFVSRSENKYKRMNSNERVRIISGSPLGSLARSSLDATKLLTEKQEELDPESELGKNLSL
IPYSLVRAFYCERRRPVLFTPTVLAKTLVQRLLNSGGAMEFTICKSDIVTRDEFLRRQKTETIIYSREKNPNAFECIAPA
NIEAVAAKNKHCLLEAGIGCTRDLIKSNIYPIVLFIRVCEKNIKRFRKLLPRPETEEEFLRVCRLKEKELEALPCLYATV
EPDMWGSVEELLRVVKDKIGEEQRKTIWVDEDQL*

Variant Samples
Additional References at PubMed
PMID:18323416   PMID:23027925   PMID:23129749   PMID:25352053   PMID:25741868   PMID:26861442   PMID:28492532   PMID:28824638   PMID:29472930  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000041969 CLINVAR
  RCV001057931 CLINVAR
  RCV002243689 CLINVAR
  RCV002512055 CLINVAR
dbSNP (RS) rs387907352 CLINVAR
MedGen C0029453 CLINVAR
  C3554686 CLINVAR
  C3661900 CLINVAR
  C4551967 CLINVAR
NCBI Gene CARD11 CLINVAR
  CARD11-AS1 CLINVAR
OMIM 607210 CLINVAR
  615206 CLINVAR
  616452 CLINVAR
OMIM Allele 607210.0002 CLINVAR