rs376405759 Rat Genome Database

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Variant: rs376405759 -  Homo sapiens

RGD ID: 150436159
RS ID: rs376405759
ClinVar ID: CV1241928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXC1  LOC129995601  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 1,610,926
GRCh38 6 1,610,691
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001453.3:c.246C>A
LRG_1245p1:p.Ser82Arg
NP_001444.2:p.Ser82Arg
LRG_1245:g.5246C>A
More... 		08/01/2019 missense variant pathogenic Anterior chamber cleavage syndrome; AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS; Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FOXC1
Accession:NM_001453
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGMARAYGPYTPQPQPKDMVKPP
YRYIALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYN
MFENGSFLRRRRRFKKKDAVKDKEEKDRLHLKEPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPL
SPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAPPPHHSQGFSVDNIMTSLRGS
PQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAM
SLYAAGERGGHLQGAPGGAGGSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGG
DLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLYRTSGAFVYDCSKF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001650517 CLINVAR
dbSNP (RS) rs376405759 CLINVAR
MedGen C2678503 CLINVAR
NCBI Gene FOXC1 CLINVAR
  LOC129995601 CLINVAR
OMIM 601090 CLINVAR
  602482 CLINVAR