rs765454938 Rat Genome Database

rs765454938 Rat Genome Database

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Variant: rs765454938 - Homo sapiens

RGD ID:

13626448

RS ID:

rs765454938

ClinVar ID:

CV529407

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127829886 LOC130057352 SMAD3

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	67,358,519
GRCh38	15	67,066,181

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_011990.1:g.5325C>T NC_000015.10:g.67066181C>T NC_000015.9:g.67358519C>T NP_005893.1:p.Pro9= NM_005902.4:c.27C>T NM_005902.3:c.27C>T More...	04/27/2021	synonymous variant	benign\|likely benign	ANEURYSMS-OSTEOARTHRITIS SYNDROME; Loeys-Dietz syndrome 3; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS; Loeys-Dietz syndrome, type 1C; SMAD3-related condition; Thoracic aortic aneurysms and dissections

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV529407	Human	Loeys-Dietz syndrome 3		IAGP		8554872	ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C	ClinVar	PMID:25741868\|PMID:28492532
CV529407	Human	thoracic aortic aneurysm		IAGP		8554872	ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	ClinVar	PMID:25741868\|PMID:28492532

Gene Symbol:	MADH3
Accession:	NM_005902
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	9

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

Gene Symbol:	SMAD3
Accession:	NM_001407011
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	9

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

Gene Symbol:	SMAD3
Accession:	NM_001407013
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	9

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

Gene Symbol:	SMAD3
Accession:	NM_001407012
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	9

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHR 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:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000654832	CLINVAR
	RCV004004129	CLINVAR
	RCV004533429	CLINVAR
dbSNP (RS)	rs765454938	CLINVAR
MedGen	C3151087	CLINVAR
	C4707243	CLINVAR
NCBI Gene	LOC130057352	CLINVAR
	SMAD3	CLINVAR
OMIM	603109	CLINVAR
	613795	CLINVAR