RGD:34897355 Rat Genome Database

Variant: RGD:34897355 - Homo sapiens

RGD ID:

34897355

RS ID:

rs147146713

ClinVar ID:

CV911105

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TGFBR1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	101,894,917
GRCh38	9	99,132,635

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001130916.3:c.343+3535G>A NM_004612.4:c.470G>A NM_001306210.2:c.482G>A NG_007461.1:g.32506G>A More...	09/06/2023	intron variant	uncertain significance	none provided; Thoracic aortic aneurysms and dissections

Disease Annotations Click to see Annotation Detail View

thoracic aortic aneurysm (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TGFBR1
Accession:	NM_001407433
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407417
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHQVPN EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREER SWFREAEIYQTVMLRHENILGFIAADNKGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTK RYMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPN RWQSCEALRVMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_004612
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHQVPN EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREER SWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLHMEI VGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFKRAD IYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANGA ARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	XM_011518948
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	92

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV YICHNRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR VMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407427
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407436
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	75

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHQVPNEE DPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREERSW FREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLHMEIVG TQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFKRADIY AMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANGAAR LTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407434
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407419
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	92

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV YICHNRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR VMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001306210
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHH QVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSS REERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHL HMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESF KRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWY ANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407423
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407426
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407432
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407430
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407428
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407424
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407425
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407422
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	92

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV YICHNRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR VMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407435
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	157

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHQVPN EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLH MEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFK RADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYA NGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407418
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	92

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV YICHNRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR VMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407420
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	92

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV YICHNRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR VMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407416
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHH QVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSS REERSWFREAEIYQTVMLRHENILGFIAADNKGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHR VGTKRYMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRP NIPNRWQSCEALRVMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NM_001407429
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH NRTVIHHQVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:	TGFBR1
Accession:	NR_176362
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	NR_176363
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	NR_176360
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	NR_176361
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	NM_001407437
Location:	INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407438
Location:	INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001130916
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001179096	CLINVAR
	RCV001815506	CLINVAR
dbSNP (RS)	rs147146713	CLINVAR
MedGen	C3661900	CLINVAR
	C4707243	CLINVAR
NCBI Gene	TGFBR1	CLINVAR
OMIM	190181	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:34897355 - Homo sapiens

Imported Disease Annotations - ClinVar