RGD:9832627 Rat Genome Database

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Variant: RGD:9832627 -  Homo sapiens

RGD ID: 9832627
RS ID: rs377034924
ClinVar ID: CV178885
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP2K1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 66,774,227
GRCh38 15 66,481,889
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008305.1:g.100017G>A
NC_000015.10:g.66481889G>A
NC_000015.9:g.66774227G>A
LRG_725t1:c.693+10G>A
More... 		05/04/2018 intron variant likely benign|uncertain significance AllHighlyPenetrant; 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:XM_011521783
Location:INTRON

Gene Symbol:MAP2K1
Accession:NM_002755
Location:INTRON

Gene Symbol:MAP2K1
Accession:NM_001411065
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 RCV000157671 CLINVAR
  RCV000603115 CLINVAR
  RCV002053901 CLINVAR
dbSNP (RS) rs377034924 CLINVAR
MedGen C3661900 CLINVAR
  C5555857 CLINVAR
  CN169374 CLINVAR
NCBI Gene MAP2K1 CLINVAR
OMIM 176872 CLINVAR