RGD:12844595 Rat Genome Database

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Variant: RGD:12844595 -  Homo sapiens

RGD ID: 12844595
RS ID: rs748379069
ClinVar ID: CV374273
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP2K1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 66,737,054
GRCh38 15 66,444,716
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_725t1:c.568+9T>C
LRG_725:g.62844T>C
NG_008305.1:g.62844T>C
NC_000015.10:g.66444716T>C
More... 		05/18/2016 intron variant likely benign none provided; Noonan spectrum disorder; rasopathies
Disease Annotations     Click to see Annotation Detail View
RASopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MAP2K1
Accession:NM_001411065
Location:INTRON

Gene Symbol:MAP2K1
Accession:NM_002755
Location:INTRON

Gene Symbol:MAP2K1
Accession:XM_011521783
Location:INTRON

Gene Symbol:MAP2K1
Accession:XM_017022411
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000438266 CLINVAR
  RCV001489198 CLINVAR
dbSNP (RS) rs748379069 CLINVAR
MedGen C3661900 CLINVAR
  C5555857 CLINVAR
NCBI Gene MAP2K1 CLINVAR
OMIM 176872 CLINVAR