RGD:8598686 Rat Genome Database

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Variant: RGD:8598686 -  Homo sapiens

RGD ID: 8598686
RS ID: rs122463168
ClinVar ID: CV26480
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZIC3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 136,649,613
GRCh38 X 137,567,454
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_000023.11:g.137567454T>G
NC_000023.10:g.136649613T>G
NP_003404.1:p.Trp255Gly
O60481:p.Trp255Gly
More... 		09/11/2013 missense|missense variant pathogenic neonatal/infancy 1-5 / 10 000|1-9 / 100 000 Dextrocardia with other cardiac malformations; Heterotaxy, visceral, X-linked; Laterality, X-linked; Situs inversus, complex cardiac defects, and splenic defects, X-linked; Visceral heterotaxia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZIC3
Accession:NM_001330661
Location:EXON
Amino Acid Prediction: W to G (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMLLDGGPQFPGLGVGSFGAPRHHEMPNREPAGMGLNPFGDSTHAAAAAAAAAAFKLSPAAAHDLSSGQSSAFTPQGSG
YANALGHHHHHHHHHHHTSQVPSYGGAASAAFNSTREFLFRQRSSGLSEAASGGGQHGLFAGSASSLHAPAGIPEPPSYL
LFPGLHEQGAGHPSPTGHVDNNQVHLGLRGELFGRADPYRPVASPRTDPYAAGAQFPNYSPMNMNMGVNVAAHHGPGAFF
RYMRQPIKQELSCKGIDEAQLSRPKKSCDRTFSTMHELVTHVTMEHVGGPEQNNHVCYWEECPREGKSFKAKYKLVNHIR
VHTGEKPFPCPFPGCGKIFARSENLKIHKRTHTGEKPFKCEFEGCDRRFANSSDRKKHMHVHTSDKPYICKVCDKSYTHP
SSLRKHMKCCPAWYPGQSLIPDEELDTDVGMQQPALHNTTYPKCRVNAEPTVQEMIY*

Gene Symbol:ZIC3
Accession:NM_003413
Location:EXON
Amino Acid Prediction: W to G (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMLLDGGPQFPGLGVGSFGAPRHHEMPNREPAGMGLNPFGDSTHAAAAAAAAAAFKLSPAAAHDLSSGQSSAFTPQGSG
YANALGHHHHHHHHHHHTSQVPSYGGAASAAFNSTREFLFRQRSSGLSEAASGGGQHGLFAGSASSLHAPAGIPEPPSYL
LFPGLHEQGAGHPSPTGHVDNNQVHLGLRGELFGRADPYRPVASPRTDPYAAGAQFPNYSPMNMNMGVNVAAHHGPGAFF
RYMRQPIKQELSCKGIDEAQLSRPKKSCDRTFSTMHELVTHVTMEHVGGPEQNNHVCYWEECPREGKSFKAKYKLVNHIR
VHTGEKPFPCPFPGCGKIFARSENLKIHKRTHTGEKPFKCEFEGCDRRFANSSDRKKHMHVHTSDKPYICKVCDKSYTHP
SSLRKHMKVHESQGSDSSPAASSGYESSTPPAIASANSKDTTKTPSAVQTSTSHNPGLPPNFNEWYV*
Variant Samples
Additional References at PubMed
PMID:17295247   PMID:18716025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012194 CLINVAR
dbSNP (RS) rs122463168 CLINVAR
MedGen C1844020 CLINVAR
NCBI Gene ZIC3 CLINVAR
OMIM 300265 CLINVAR
  306955 CLINVAR
OMIM Allele 300265.0009 CLINVAR