RGD:155671156 Rat Genome Database

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Variant: RGD:155671156 -  Homo sapiens

RGD ID: 155671156
ClinVar ID: CV1856812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INPP5K  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 1,417,161
GRCh38 17 1,513,867
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_130766.3:c.-77+5G>T
NM_016532.4:c.152+5G>T
NG_029891.1:g.8022G>T
NC_000017.11:g.1513867C>A
More... 		10/20/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:INPP5K
Accession:NM_130766
Location:5UTRS;INTRON

Gene Symbol:INPP5K
Accession:NM_001135642
Location:5UTRS;INTRON

Gene Symbol:INPP5K
Accession:XM_011523934
Location:5UTRS;INTRON

Gene Symbol:INPP5K
Accession:XM_024450802
Location:5UTRS;INTRON

Gene Symbol:INPP5K
Accession:XM_047436294
Location:5UTRS;INTRON

Gene Symbol:INPP5K
Accession:NM_016532
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002453243 CLINVAR
MedGen C4479410 CLINVAR
NCBI Gene INPP5K CLINVAR
OMIM 607875 CLINVAR
  617404 CLINVAR