RGD:12844162 Rat Genome Database

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Variant: RGD:12844162 -  Homo sapiens

RGD ID: 12844162
RS ID: rs371792840
ClinVar ID: CV378339
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASK  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 41,437,578
GRCh38 X 41,578,325
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.41578325T>C
NC_000023.10:g.41437578T>C
NM_001367721.1:c.1503+15A>G
NM_001410745.1:c.1485+15A>G
More... 		09/27/2022 intron variant benign|likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:CASK
Accession:XM_011543993
Location:INTRON

Gene Symbol:CASK
Accession:XM_011543997
Location:INTRON

Gene Symbol:CASK
Accession:XM_047442601
Location:INTRON

Gene Symbol:CASK
Accession:NM_001126055
Location:INTRON

Gene Symbol:CASK
Accession:NM_001410745
Location:INTRON

Gene Symbol:CASK
Accession:NM_001367721
Location:INTRON

Gene Symbol:CASK
Accession:NM_003688
Location:INTRON

Gene Symbol:CASK
Accession:NM_001126054
Location:INTRON

Gene Symbol:CASK
Accession:XM_011543996
Location:INTRON

Gene Symbol:CASK
Accession:XM_006724566
Location:INTRON

Gene Symbol:CASK
Accession:XM_011543994
Location:INTRON

Gene Symbol:CASK
Accession:XM_011543995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000437501 CLINVAR
  RCV002522568 CLINVAR
dbSNP (RS) rs371792840 CLINVAR
MedGen CN043158 CLINVAR
  CN169374 CLINVAR
NCBI Gene CASK CLINVAR
OMIM 300172 CLINVAR