RGD:155644606 Rat Genome Database

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Variant: RGD:155644606 -  Homo sapiens

RGD ID: 155644606
ClinVar ID: CV1685592
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FOXC1  LOC129995601  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 1,610,949
GRCh38 6 1,610,714
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1245:g.5269C>T
NC_000006.11:g.1610949C>T
NG_009368.1:g.5269C>T
NP_001444.2:p.Ala90Val
More... 		06/23/2022 missense variant likely 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: A to V (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGMARAYGPYTPQPQPKDMVKPP
YSYIALITMVIQNAPDKKITLNGIYQFIMDRFPFYRDNKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYN
MFENGSFLRRRRRFKKKDAVKDKEEKDRLHLKEPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPL
SPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAPPPHHSQGFSVDNIMTSLRGS
PQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSLYSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAM
SLYAAGERGGHLQGAPGGAGGSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGG
DLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLYRTSGAFVYDCSKF*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:35882526  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002293588 CLINVAR
MedGen C2678503 CLINVAR
NCBI Gene FOXC1 CLINVAR
  LOC129995601 CLINVAR
OMIM 601090 CLINVAR
  602482 CLINVAR