rs1595882053 Rat Genome Database

rs1595882053 Rat Genome Database

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Variant: rs1595882053 - Homo sapiens

RGD ID:

15103860

RS ID:

rs1595882053

ClinVar ID:

CV688474

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127829886 LOC130057352 SMAD3

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	67,358,504
GRCh38	15	67,066,166

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005902.4:c.12C>T NP_005893.1:p.Ile4= NG_011990.1:g.5310C>T NC_000015.10:g.67066166C>T More...	08/11/2021	synonymous variant	likely benign\|uncertain significance	ANEURYSMS-OSTEOARTHRITIS SYNDROME; Loeys-Dietz syndrome 3; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS; Loeys-Dietz syndrome, type 1C; Thoracic aortic aneurysms and dissections

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV688474	Human	Loeys-Dietz syndrome 3		IAGP		8554872	ClinVar Annotator: match by term: Loeys-Dietz syndrome 3	ClinVar	PMID:28492532
CV688474	Human	thoracic aortic aneurysm		IAGP		8554872	ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	ClinVar	PMID:28492532

Gene Symbol:	MADH3
Accession:	NM_005902
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	4

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:	I to I (synonymous)
Amino Acid Position:	4

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:	I to I (synonymous)
Amino Acid Position:	4

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

Gene Symbol:	SMAD3
Accession:	NM_001407012
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	4

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:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001117315	CLINVAR
	RCV001416536	CLINVAR
dbSNP (RS)	rs1595882053	CLINVAR
MedGen	C3151087	CLINVAR
	C4707243	CLINVAR
NCBI Gene	LOC130057352	CLINVAR
	SMAD3	CLINVAR
OMIM	603109	CLINVAR
	613795	CLINVAR