RGD:10049495 Rat Genome Database

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Variant: RGD:10049495 -  Homo sapiens

RGD ID: 10049495
RS ID: rs794726934
ClinVar ID: CV190516
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZIC2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 100,634,489
GRCh38 13 99,982,235
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000013.11:g.99982235G>C
NC_000013.10:g.100634489G>C
NP_009060.2:p.Met57Ile
NG_007085.3:g.5480G>C
More... 		01/23/2015 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ZIC2
Accession:NM_007129
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLDAGPQFPAIGVGSFARHHHHSAAAAAAAAAEMQDRELSLAAAQNGFVDSAAAHIGAFKLNPGAHELSPGQSSAFTSQ
GPGAYPGSAAAAAAAAALGPHAAHVGSYSGPPFNSTRDFLFRSRGFGDSAPGGGQHGLFGPGAGGLHHAHSDAQGHLLFP
GLPEQHGPHGSQNVLNGQMRLGLPGEVFGRSEQYRQVASPRTDPYSAAQLHNQYGPMNMNMGMNMAAAAAHHHHHHHHHP
GAFFRYMRQQCIKQELICKWIDPEQLSNPKKSCNKTFSTMHELVTHVSVEHVGGPEQSNHVCFWEECPREGKPFKAKYKL
VNHIRVHTGEKPFPCPFPGCGKVFARSENLKIHKRTHTGEKPFQCEFEGCDRRFANSSDRKKHMHVHTSDKPYLCKMCDK
SYTHPSSLRKHMKVHESSPQGSESSPAASSGYESSTPPGLVSPSAEPQSSSNLSPAAAAAAAAAAAAAAAVSAVHRGGGS
GSGGAGGGSGGGSGSGGGGGGAGGGGGGSSGGGSGTAGGHSGLSSNFNEWYV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000173416 CLINVAR
dbSNP (RS) rs794726934 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ZIC2 CLINVAR
OMIM 603073 CLINVAR