RGD:155644592 Rat Genome Database

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Variant: RGD:155644592 -  Homo sapiens

RGD ID: 155644592
ClinVar ID: CV1685579
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXC1  LOC129995601  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 1,610,954
GRCh38 6 1,610,719
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.274C>T
NC_000006.11:g.1610954C>T
LRG_1245p1:p.Gln92Ter
LRG_1245t1:c.274C>T
More... 		12/05/2023 nonsense 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: Q to * (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGMARAYGPYTPQPQPKDMVKPP
YSYIALITMAI*NAPDKKITLNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYN
MFENGSFLRRRRRFKKKDAVKDKEEKDRLHLKEPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPL
SPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAPPPHHSQGFSVDNIMTSLRGS
PQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAM
SLYAAGERGGHLQGAPGGAGGSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGG
DLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLYRTSGAFVYDCSKF*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:28513611   PMID:30457409   PMID:35882526  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002293574 CLINVAR
MedGen C2678503 CLINVAR
NCBI Gene FOXC1 CLINVAR
  LOC129995601 CLINVAR
OMIM 601090 CLINVAR
  602482 CLINVAR