RGD:401888213 Rat Genome Database

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Variant: RGD:401888213 -  Homo sapiens

RGD ID: 401888213
ClinVar ID: CV2788141
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTNNA1  LRRTM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 138,209,114
GRCh38 5 138,873,425
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001290307.3:c.1063-12787G>A
NM_001323982.2:c.1063-12787G>A
NM_001323983.1:c.1063-12787G>A
NM_001323984.2:c.1063-12787G>A
More... 		08/04/2023 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRRTM2
Accession:NM_015564
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLHFKWPLGAPMLAAIYAMSMVLKMLPALGMACPPKCRCEKLLFYCDSQGFHSVPNATDKGSLGLSLRHNHITELERDQ
FASFSQLTWLHLDHNQISTVKEDAFQGLYKLKELILSSNKIFYLPNTTFTQLINLQNLDLSFNQLSSLHPELFYGLRKLQ
TLHLRSNSLRTIPVRLFWDCRSLEFLDLSTNRLRSLARNGFAGLIKLRELHLEHNQLTKINFAHFLRLSSLHTLFLQWNK
ISNLTCGMEWTWGTLEKLDLTGNEIKAIDLTVFETMPNLKILLMDNNKLNSLDSKILNSLRSLTTVGLSGNLWECSARIC
ALASWLGSFQGRWEHSILCHSPDHTQGEDILDAVHGFQLCWNLSTTVTVMATTYRDPTNEYTKRISSSSYHVGDKEIPTT
AGIAVTTEEHFPEPDNAIFTQRVITGTMALLFSFFFIIFIVFISRKCCPPTLRRIRQCSMVQNHRQLRSQTRLHMSNMSD
QGPYNEYEPTHEGPFIIINGYGQCKCQQLPYKECEV*

Gene Symbol:CTNNA1
Accession:NM_001323985
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323991
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324009
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324008
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324001
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323989
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324010
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001290310
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323998
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001290307
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323993
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323990
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323995
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324007
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324006
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324004
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001903
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323983
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323997
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323988
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323999
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001290309
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324005
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324003
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323996
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323994
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001290312
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324000
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323984
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323986
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324002
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323987
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324012
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323992
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001323982
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324013
Location:INTRON

Gene Symbol:CTNNA1
Accession:NM_001324011
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003367598 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CTNNA1 CLINVAR
  LRRTM2 CLINVAR
OMIM 116805 CLINVAR
  610868 CLINVAR