RGD:11609978 Rat Genome Database

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Variant: RGD:11609978 -  Homo sapiens

RGD ID: 11609978
RS ID: rs868750856
ClinVar ID: CV323907
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MGP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 15,038,680
GRCh38 12 14,885,746
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
NG_023331.1:g.5174G>A
NC_000012.12:g.14885746C>T
NC_000012.11:g.15038680C>T
NP_000891.2:p.Val16Ile
More... 		06/14/2016 missense variant uncertain significance childhood <1 / 1 000 000 Pulmonic stenosis brachytelephalangism and calcification of cartilages
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MGP
Accession:NM_000900
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSLILLAILAALAVITLCYESHESMESYELNPFINRRNANTFISPQQRWRAKVQERIRERSKPVHELNREACDDYRLCE
RYAMVYGYNAAYNRYFRKRRGTK*

Gene Symbol:MGP
Accession:NM_001190839
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSLILLAILAALAVITLCYGEWQKEENFGFDIVSVLSLNWHRAQESHESMESYELNPFINRRNANTFISPQQRWRAKVQ
ERIRERSKPVHELNREACDDYRLCERYAMVYGYNAAYNRYFRKRRGTK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000375389 CLINVAR
dbSNP (RS) rs868750856 CLINVAR
MedGen C1855607 CLINVAR
NCBI Gene MGP CLINVAR
OMIM 154870 CLINVAR
  245150 CLINVAR