RGD:9693045 Rat Genome Database

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Variant: RGD:9693045 -  Homo sapiens

RGD ID: 9693045
RS ID: rs727503996
ClinVar ID: CV177413
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP2K1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 66,774,132
GRCh38 15 66,481,794
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.99922A>G
NC_000015.10:g.66481794A>G
NC_000015.9:g.66774132A>G
NP_002746.1:p.Glu203Gly
More... 		05/15/2023 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance none provided; Noonan spectrum disorder; Noonan's syndrome; Pseudo-Turner syndrome; rasopathies
Disease Annotations     Click to see Annotation Detail View
Noonan syndrome  (IAGP)
RASopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:MAP2K1
Accession:NM_002755
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGG
VVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGR
IPEQILGKVSIAVIKGLTYLREKHKIMHRDVKPSNILVNSRGGIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHY
SVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNE
PPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:XM_011521783
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE
IKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYLRE
KHKIMHRDVKPSNILVNSRGGIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYP
IPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCL
IKNPAERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE
IKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKIMHRDVKPSNILVNSRGGIKLCD
FGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPP
RPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEE
VDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:XM_017022411
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGG
VVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKI
MHRDVKPSNILVNSRGGIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPP
DAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNP
AERADLKQLMVHAFIKRSDAEEVDFAGWLCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:NM_001411065
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE
IKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKIMHRDVKPSNILVNSRGGIKLCD
FGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPP
RPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEE
VDFAGWLCSTIGLNQPSTPTHAAGV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000153454 CLINVAR
  RCV000824938 CLINVAR
  RCV001250390 CLINVAR
dbSNP (RS) rs727503996 CLINVAR
MedGen C0028326 CLINVAR
  C3661900 CLINVAR
  C5555857 CLINVAR
NCBI Gene MAP2K1 CLINVAR
OMIM 176872 CLINVAR
SNOMED CT 205824006 CLINVAR