RGD:26896101 Rat Genome Database

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Variant: RGD:26896101 -  Homo sapiens

RGD ID: 26896101
RS ID: rs747375513
ClinVar ID: CV838112
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TEAD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 12,904,572
GRCh38 11 12,883,025
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021961.6:c.599C>T
NG_021302.1:g.213604C>T
NC_000011.10:g.12883025C>T
NC_000011.9:g.12904572C>T
More... 		12/11/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TEAD1
Accession:NM_021961
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
IEPSSWSGSESPAENMERMSDSADKPIDNDAEGVWSPDIEQSFQEALAIYPPCGRRKIILSDEGKMYGRNELIARYIKLR
TGKTRTRKQVSSHIQVLARRKSRDFHSKLKDQTAKDKALQHMAAMSSAQIVSATAIHNKLGLPGIPRPTFPGAPGFWPGM
IQTGQPGSSQDVKPFVQQAYPIQPAVTAPIPGFEPASAPVPSVPAWQGRSIGTTKLRLVEFSAFLEQQRDPDSYNKHLFV
HIGHANHSYSDPLLESVDIRQIYDKFPEKKGGLKELFGKGPQNAFFLVKFWADLNCNIQDDAGAFYGVTSQYESSENMTV
TCSTKVCSFGKQVVEKVETEYARFENGRFVYRINRSPMCEYMINFIHKLKHLPEKYMMNSVLENFTILLVVTNRDTQETL
LCMACVFEVSNSEHGAQHHIYRLVKD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001064471 CLINVAR
dbSNP (RS) rs747375513 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TEAD1 CLINVAR
OMIM 189967 CLINVAR