RGD:11589568 Rat Genome Database

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Variant: RGD:11589568 -  Homo sapiens

RGD ID: 11589568
RS ID: rs751312423
ClinVar ID: CV303325
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSX2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 174,157,233
GRCh38 5 174,730,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008124.1:g.10659C>T
NC_000005.10:g.174730230C>T
NC_000005.9:g.174157233C>T
NM_001363626.2:c.*1075C>T
More... 		06/14/2016 3 prime utr variant uncertain significance Craniosynostosis Boston type; Craniosynostosis Warman type; FORAMINA PARIETALIA PERMAGNA; PARIETAL FORAMINA, SYMMETRIC; Warman-Mulliken-Hayward syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MSX2
Accession:NM_001363626
Location:3UTRS;EXON

Gene Symbol:MSX2
Accession:NM_002449
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000311469 CLINVAR
  RCV000404786 CLINVAR
dbSNP (RS) rs751312423 CLINVAR
MedGen C1858160 CLINVAR
  C1868599 CLINVAR
NCBI Gene MSX2 CLINVAR
OMIM 123101 CLINVAR
  168500 CLINVAR
  604757 CLINVAR