RGD:10047963 Rat Genome Database

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Variant: RGD:10047963 -  Homo sapiens

RGD ID: 10047963
RS ID: rs749321162
ClinVar ID: CV191797
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: CASK  
Reference Nucleotide: A
Variant Nucleotide: AA
Position
Assembly Chr Position
GRCh37 X 41,429,005
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.41569752dup
NM_003688.3:c.1504-6dup
NG_016754.2:g.358283dup
NC_000023.11:g.41569761dup
More... 		12/11/2019 intron variant benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:CASK
Accession:NM_001126054
Location:INTRON

Gene Symbol:CASK
Accession:NM_003688
Location:INTRON

Gene Symbol:CASK
Accession:NM_001126055
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175048 CLINVAR
  RCV000872844 CLINVAR
dbSNP (RS) rs749321162 CLINVAR
MedGen CN043158 CLINVAR
  CN169374 CLINVAR
NCBI Gene CASK CLINVAR
OMIM 300172 CLINVAR