RGD:402517448 Rat Genome Database

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Variant: RGD:402517448 -  Homo sapiens

RGD ID: 402517448
ClinVar ID: CV2865412
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXC1  LOC129995601  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 1,610,929
GRCh38 6 1,610,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1245t1:c.249C>A
NM_001453.3:c.249C>A
LRG_1245:g.5249C>A
NG_175047.1:g.122C>A
More... 		11/27/2023 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: Y to * (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGMARAYGPYTPQPQPKDMVKPP
YS*IALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYN
MFENGSFLRRRRRFKKKDAVKDKEEKDRLHLKEPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPL
SPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAPPPHHSQGFSVDNIMTSLRGS
PQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAM
SLYAAGERGGHLQGAPGGAGGSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGG
DLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLYRTSGAFVYDCSKF*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:28513611  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003510480 CLINVAR
MedGen C2678503 CLINVAR
NCBI Gene FOXC1 CLINVAR
  LOC129995601 CLINVAR
OMIM 601090 CLINVAR
  602482 CLINVAR