RGD:28903552 Rat Genome Database

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Variant: RGD:28903552 -  Homo sapiens

RGD ID: 28903552
RS ID: rs77229212
ClinVar ID: CV893977
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSX2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 174,157,792
GRCh38 5 174,730,789
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002449.5:c.*1206T>C
NM_001363626.2:c.*1634T>C
NG_008124.1:g.11218T>C
NC_000005.10:g.174730789T>C
More... 		01/12/2018 3 prime utr variant benign|likely benign 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 RCV001157606 CLINVAR
  RCV001157607 CLINVAR
dbSNP (RS) rs77229212 CLINVAR
MedGen C1858160 CLINVAR
  C1868599 CLINVAR
NCBI Gene MSX2 CLINVAR
OMIM 123101 CLINVAR
  168500 CLINVAR
  604757 CLINVAR