RGD:10056083 Rat Genome Database

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Variant: RGD:10056083 -  Homo sapiens

RGD ID: 10056083
RS ID: rs794729641
ClinVar ID: CV199799
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZIC2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 100,637,582
GRCh38 13 99,985,328
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000013.11:g.99985328T>G
NC_000013.10:g.100637582T>G
NP_009060.2:p.His415Gln
O95409:p.His415Gln
More... 		10/31/2014 missense variant likely pathogenic antenatal|neonatal/infancy 1-5 / 10 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZIC2
Accession:NM_007129
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 415
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLDAGPQFPAIGVGSFARHHHHSAAAAAAAAAEMQDRELSLAAAQNGFVDSAAAHMGAFKLNPGAHELSPGQSSAFTSQ
GPGAYPGSAAAAAAAAALGPHAAHVGSYSGPPFNSTRDFLFRSRGFGDSAPGGGQHGLFGPGAGGLHHAHSDAQGHLLFP
GLPEQHGPHGSQNVLNGQMRLGLPGEVFGRSEQYRQVASPRTDPYSAAQLHNQYGPMNMNMGMNMAAAAAHHHHHHHHHP
GAFFRYMRQQCIKQELICKWIDPEQLSNPKKSCNKTFSTMHELVTHVSVEHVGGPEQSNHVCFWEECPREGKPFKAKYKL
VNHIRVHTGEKPFPCPFPGCGKVFARSENLKIHKRTHTGEKPFQCEFEGCDRRFANSSDRKKHMHVHTSDKPYLCKMCDK
SYTHPSSLRKHMKVQESSPQGSESSPAASSGYESSTPPGLVSPSAEPQSSSNLSPAAAAAAAAAAAAAAAVSAVHRGGGS
GSGGAGGGSGGGSGSGGGGGGAGGGGGGSSGGGSGTAGGHSGLSSNFNEWYV*
Variant Samples
Additional References at PubMed
PMID:19177455   PMID:19955556  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000185543 CLINVAR
dbSNP (RS) rs794729641 CLINVAR
MedGen C1864827 CLINVAR
NCBI Gene ZIC2 CLINVAR
OMIM 603073 CLINVAR
  609637 CLINVAR