RGD:13626530 Rat Genome Database

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Variant: RGD:13626530 -  Homo sapiens

RGD ID: 13626530
RS ID: rs752538915
ClinVar ID: CV529402
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP2K1  SNAPC5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 66,782,894
GRCh38 15 66,490,556
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_725:g.108684C>A
NG_008305.1:g.108684C>A
NC_000015.10:g.66490556C>A
NC_000015.9:g.66782894C>A
More... 		12/07/2020 3 prime utr variant|missense variant likely benign|uncertain significance AllHighlyPenetrant; Noonan spectrum disorder; rasopathies
Disease Annotations     Click to see Annotation Detail View
RASopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SNAPC5
Accession:NM_006049
Location:3UTRS;EXON

Gene Symbol:MAP2K1
Accession:NM_001411065
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 327
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE
IKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCD
FGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPP
RPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEE
VDFAGWFCSTIGLNQPSTPTHAAGV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 327
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE
IKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCD
FGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPP
RPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEE
VDFAGWFCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:XM_011521783
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 353
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLERTNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGGVVFKVSHKPSGLVMARKLIHLE
IKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGRIPEQILGKVSIAVIKGLTYLRE
KHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYP
IPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCL
IKNPAERADLKQLMVHAFIKRSDAEEVDFAGWFCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:XM_017022411
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGG
VVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMVIKGLTYLREKHKI
MHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSMGLSLVEMAVGRYPIPPP
DAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNEPPPKLPSGVFSLEFQDFVNKCLIKNP
AERADLKQLMVHAFIKRSDAEEVDFAGWFCSTIGLNQPSTPTHAAGV*

Gene Symbol:MAP2K1
Accession:NM_002755
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 375
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKKKPTPIQLNPAPDGSAVNGTSSAETNLEALQKKLEELELDEQQRKRLEAFLTQKQKVGELKDDDFEKISELGAGNGG
VVFKVSHKPSGLVMARKLIHLEIKPAIRNQIIRELQVLHECNSPYIVGFYGAFYSDGEISICMEHMDGGSLDQVLKKAGR
IPEQILGKVSIAVIKGLTYLREKHKIMHRDVKPSNILVNSRGEIKLCDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHY
SVQSDIWSMGLSLVEMAVGRYPIPPPDAKELELMFGCQVEGDAAETPPRPRTPGRPLSSYGMDSRPPMAIFELLDYIVNE
PPPKLPSGVFSLEFQDFVNKCLIKNPAERADLKQLMVHAFIKRSDAEEVDFAGWFCSTIGLNQPSTPTHAAGV*

Gene Symbol:SNAPC5
Accession:NR_138061
Location:EXON;NON-CODING

Gene Symbol:SNAPC5
Accession:XR_007064417
Location:EXON;NON-CODING

Gene Symbol:SNAPC5
Accession:XR_007064416
Location:EXON;NON-CODING

Gene Symbol:SNAPC5
Accession:NM_001329615
Location:INTRON

Gene Symbol:SNAPC5
Accession:NM_001329613
Location:INTRON

Gene Symbol:SNAPC5
Accession:NM_001329614
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000654970 CLINVAR
  RCV001280605 CLINVAR
dbSNP (RS) rs752538915 CLINVAR
MedGen C5555857 CLINVAR
  CN169374 CLINVAR
NCBI Gene MAP2K1 CLINVAR
  SNAPC5 CLINVAR
OMIM 176872 CLINVAR
  605979 CLINVAR