rs1390289135 Rat Genome Database

rs1390289135 Rat Genome Database

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Variant: rs1390289135 - Homo sapiens

RGD ID:

13476750

RS ID:

rs1390289135

ClinVar ID:

CV465259

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127829886 LOC130057352 SMAD3

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	67,358,526
GRCh38	15	67,066,188

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_011990.1:g.5332G>T NC_000015.10:g.67066188G>T NC_000015.9:g.67358526G>T NP_005893.1:p.Val12Leu NM_005902.4:c.34G>T NM_005902.3:c.34G>T More...	07/06/2022	missense variant	uncertain significance	Thoracic aortic aneurysms and dissections

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV465259	Human	thoracic aortic aneurysm		IAGP		8554872	ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection	ClinVar	PMID:28492532

Gene Symbol:	MADH3
Accession:	NM_005902
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPILKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHR KGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSI PENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYEL NQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNC NQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHL NGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001407011
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPILKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHR KGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSI PENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYEL NQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNC NQRYGWHPATVCKIPPGKAPLSTPSPYFWKPSLQTSPCSGSRSLWASLPSPLAGCNLKIFNNQEFAALLAQSVNQGFEAV YQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001407013
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPILKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHR KGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSI PENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYEL NQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGCNLKIFNNQEFAALLAQSVNQGFEAVYQL TRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001407012
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	12

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPILKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHR KGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPETPPPGYLSEDGETSDHQMNHSMDAGS PNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVE LTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVY QLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS*

Gene Symbol:	SMAD3
Accession:	NM_001145102
Location:	INTRON

Gene Symbol:	SMAD3
Accession:	NM_001145103
Location:	INTRON

Gene Symbol:	SMAD3
Accession:	NM_001145104
Location:	INTRON

Gene Symbol:	SMAD3
Accession:	NM_001407014
Location:	INTRON

Gene Symbol:	SMAD3
Accession:	NM_001407015
Location:	INTRON

Gene Symbol:	SMAD3
Accession:	NM_001407016
Location:	INTRON

Gene Symbol:	SMAD3
Accession:	NM_001407017
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000526860	CLINVAR
dbSNP (RS)	rs1390289135	CLINVAR
MedGen	C4707243	CLINVAR
NCBI Gene	LOC130057352	CLINVAR
	SMAD3	CLINVAR
OMIM	603109	CLINVAR