RGD:11624680 Rat Genome Database

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Variant: RGD:11624680 -  Homo sapiens

RGD ID: 11624680
RS ID: rs373100223
ClinVar ID: CV330677
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 76,425,539
GRCh38 14 75,959,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_399:g.27554A>G
NG_011715.1:g.27554A>G
NC_000014.9:g.75959196T>C
NC_000014.8:g.76425539T>C
More... 		01/23/2020 synonymous variant likely benign|uncertain significance Loeys-Dietz syndrome 5; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFB3
Accession:NM_003239
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMHLQRALVVLALLNFATVSLSLSTCTTLDFGHIKKKRVEAIRGQILSKLRLTSPPEPTVMTHVPYQVLALYNSTRELL
EEMHGEREEGCTQENTESEYYAKEIHKFDMIQGLAEHNELAVCPKGITSKVFRFNVSSVEKNRTNLFRAEFRVLRVPNPS
SKRNEQRIELFQILRPDEHIAKQRYIGGKNLPTRGTAEWLSFDVTDTVREWLLRRESNLGLEISIHCPCHTFQPNGDILE
NIHEVMEIKFKGVDNEDDHGRGDLGRLKKQKDHHNPHLILMMIPPHRLDNPGQGGQRKKRALDTNYCFRNLEENCCVRPL
YIDFRQDLGWKWVHEPKGYYANFCSGPCPYLRSADTTHSTVLGLYNTLNPEASASPCCVPQDLEPLTILYYVGRTPKVEQ
LSNMVVKSCKCS*

Gene Symbol:TGFB3
Accession:NM_001329939
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMHLQRALVVLALLNFATVSLSLSTCTTLDFGHIKKKRVEAIRGQILSKLRLTSPPEPTVMTHVPYQVLALYNSTRELL
EEMHGEREEGCTQENTESEYYAKEIHKFDMIQGLAEHNELAVCPKGITSKVFRFNVSSVEKNRTNLFRAEFRVLRVPNPS
SKRNEQRIELFQILRPDEHIAKQRYIGGKNLPTRGTAEWLSFDVTDTVREWLLRRESNLGLEISIHCPCHTFQPNGDILE
NIHEVMEIKFKGVDNEDDHGRGDLGRLKKQKDHHNPHLILMMIPPHRLDNPGQGGQRKKRALDTNYCFRNLEENCCVRPL
YIDFRQDLGWKWVHEPKGYYANFCSGPCPYLRSADTTHSTVLGLYNTLNPEASASPCCVPQDLEPLTILYYVGRTPKVEQ
LSNMVVKSCKCS*

Gene Symbol:TGFB3
Accession:NM_001329938
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002365368 CLINVAR
  RCV002520924 CLINVAR
dbSNP (RS) rs373100223 CLINVAR
MedGen C3810012 CLINVAR
  C4707243 CLINVAR
NCBI Gene TGFB3 CLINVAR
OMIM 190230 CLINVAR
  615582 CLINVAR