RGD:404994663 Rat Genome Database

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Variant: RGD:404994663 -  Homo sapiens

RGD ID: 404994663
ClinVar ID: CV2995884
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 45,371,712
GRCh38 18 47,845,341
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001135937.3:c.1189C>T
NM_001003652.4:c.1279C>T
NM_005901.6:c.1279C>T
NG_029946.2:g.90531C>T
More... 		12/21/2023 nonsense uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SMAD2
Accession:NM_001003652
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPST
CSEIWGLSTPNTIDQWDTTGLYSFSEQTRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEV
CVNPYHYQRVETPVLPPVLVPRHTEILTELPPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQS
MDTGSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVN
RNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQ
GFEAVYQLTRMCTIRMSFVKGWGAEY*RQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS*

Gene Symbol:SMAD2
Accession:NM_005901
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 427
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPST
CSEIWGLSTPNTIDQWDTTGLYSFSEQTRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEV
CVNPYHYQRVETPVLPPVLVPRHTEILTELPPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQS
MDTGSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVN
RNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQ
GFEAVYQLTRMCTIRMSFVKGWGAEY*RQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS*

Gene Symbol:SMAD2
Accession:NM_001135937
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 397
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDELEKAITTQNCNTKCVTIPRS
LDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEVCVNPYHYQRVETPVLPPVLVPRHTEILTEL
PPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQSMDTGSPAELSPTTLSPVNHSLDLQPVTYSE
PAFWCSIAYYELNQRVGETFHASQPSLTVDGFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECL
SDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEY*RQT
VTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS*

Gene Symbol:SMAD2
Accession:XM_047437508
Location:INTRON

Gene Symbol:SMAD2
Accession:XM_047437507
Location:INTRON

Gene Symbol:SMAD2
Accession:XM_017025749
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003692496 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMAD2 CLINVAR
OMIM 601366 CLINVAR