RGD:10405839 Rat Genome Database

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Variant: RGD:10405839 -  Homo sapiens

RGD ID: 10405839
RS ID: rs55694358
ClinVar ID: CV213138
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP2K1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 66,729,081
GRCh38 15 66,436,743
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_725t1:c.292-3C>T
LRG_725:g.54871C>T
NG_008305.1:g.54871C>T
NC_000015.10:g.66436743C>T
More... 		07/12/2021 intron variant benign|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:MAP2K1
Accession:NM_001411065
Location:INTRON

Gene Symbol:MAP2K1
Accession:XM_011521783
Location:INTRON

Gene Symbol:MAP2K1
Accession:XM_017022411
Location:INTRON

Gene Symbol:MAP2K1
Accession:NM_002755
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000198762 CLINVAR
  RCV000825076 CLINVAR
  RCV003456377 CLINVAR
  RCV003917820 CLINVAR
dbSNP (RS) rs55694358 CLINVAR
MedGen C3661900 CLINVAR
  C5555857 CLINVAR
  CN169374 CLINVAR
NCBI Gene MAP2K1 CLINVAR
OMIM 176872 CLINVAR