RGD:11639430 Rat Genome Database

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Variant: RGD:11639430 -  Homo sapiens

RGD ID: 11639430
RS ID: rs886042300
ClinVar ID: CV266296
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFBR1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 101,891,230
GRCh38 9 99,128,948
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001124388.1:p.Lys64Arg
NG_007461.1:g.28819A>G
NC_000009.12:g.99128948A>G
NC_000009.11:g.101891230A>G
More... 		05/18/2022 missense variant uncertain significance Aortic aneurysm syndrome, Loeys-Dietz type; Aortic aneurysm, familial thoracic 5; Furlong syndrome; Loeys-Dietz syndrome type 1A; Loeys-Dietz syndrome type 2A; none provided; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFBR1
Accession:NM_001407425
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407433
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407432
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407418
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407429
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407426
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407423
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407427
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407434
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407419
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407430
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407422
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407428
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407420
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001407424
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:XM_011518948
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:TGFBR1
Accession:NM_001306210
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDRVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHH
RVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSS
REERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHL
HMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESF
KRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWY
ANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407435
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDRVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPN
EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLH
MEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFK
RADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYA
NGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407417
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDRVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPN
EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREER
SWFREAEIYQTVMLRHENILGFIAADNKGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTK
RYMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPN
RWQSCEALRVMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001130916
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDRVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSR
EERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLH
MEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFK
RADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYA
NGAARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_004612
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDRVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPN
EEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREER
SWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVEGMIKLALSTASGLAHLHMEI
VGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFKRAD
IYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANGA
ARLTALRIKKTLSQLSQQEGIKM*

Gene Symbol:TGFBR1
Accession:NM_001407416
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTETTDRVIHNSMCIAEIDLIPR
DRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTGPFSVKSSPGLGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHH
RVPNEEDPSLDRPFISEGTTLKDLIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSS
REERSWFREAEIYQTVMLRHENILGFIAADNKGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNHR
VGTKRYMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGIHEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRP
NIPNRWQSCEALRVMAKIMRECWYANGAARLTALRIKKTLSQLSQQEGIKM*

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

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

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

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

Gene Symbol:TGFBR1
Accession:NM_001407438
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407436
Location:INTRON

Gene Symbol:TGFBR1
Accession:NM_001407437
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000320806 CLINVAR
  RCV001166107 CLINVAR
  RCV002411148 CLINVAR
dbSNP (RS) rs886042300 CLINVAR
MedGen C3661900 CLINVAR
  C4551955 CLINVAR
  C4707243 CLINVAR
NCBI Gene TGFBR1 CLINVAR
OMIM 190181 CLINVAR
  609192 CLINVAR