RGD:11551602 Rat Genome Database

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Variant: RGD:11551602 -  Homo sapiens

RGD ID: 11551602
RS ID: rs886039015
ClinVar ID: CV258616
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFBR1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 101,907,081
GRCh38 9 99,144,799
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007461.1:g.44670C>G
NC_000009.12:g.99144799C>G
NC_000009.11:g.101907081C>G
NM_004612.2:c.1041C>G
More... 		08/30/2021 missense variant uncertain significance Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFBR1
Accession:NM_001407428
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001306210
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHH
RVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSS
REERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHL
HMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESF
KRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWY
ANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407433
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407416
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHH
RVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSS
REERSWFREAEIYQTVMLRHENILGFIAADNKGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHR
VGTKRYMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRP
NIPNRWQSCEALRVMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001130916
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSR
EERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLH
MEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFK
RADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYA
NGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407437
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 111
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHL
HMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESF
KRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWY
ANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407432
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407436
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPNEE
DPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREERSW
FREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLHMEIVG
TQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFKRADIY
AMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANGAAR
LTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407427
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_004612
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPN
EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREER
SWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLHMEI
VGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFKRAD
IYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANGA
ARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407438
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREE
RSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLHME
IVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFKRA
DIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANG
AARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407430
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407429
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:XM_011518948
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV
YICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR
GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL
ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD
DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR
VMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407417
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 291
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPN
EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREER
SWFREAEIYQTVMLRHENILGFIAADNKGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTK
RYMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPN
RWQSCEALRVMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407434
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407422
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV
YICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR
GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL
ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD
DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR
VMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407426
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407423
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407418
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV
YICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR
GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL
ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD
DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR
VMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407424
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407425
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICH
NRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEV
AVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALST
ASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSIN
MKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAK
IMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407419
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV
YICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR
GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL
ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD
DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR
VMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407420
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMV
YICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWR
GEEVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKL
ALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLD
DSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALR
VMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407435
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPN
EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLH
MEIVGTQGKPAIAHRDLKSKNILVKKNGTWCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFK
RADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYA
NGAARLTALRIKKTLSQLSQQEGIKM*

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:27879313   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001059804 CLINVAR
dbSNP (RS) rs886039015 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene TGFBR1 CLINVAR
OMIM 190181 CLINVAR