RGD:13520548 Rat Genome Database

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Variant: RGD:13520548 -  Homo sapiens

RGD ID: 13520548
RS ID: rs1554698470
ClinVar ID: CV495042
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: HNRNPK  
Reference Nucleotide: C
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 9 86,586,271
GRCh38 9 83,971,356
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.83971357del
NC_000009.11:g.86586272del
NG_029577.1:g.14299del
NM_002140.4:c.1009delG
 01/07/2018 frameshift variant|splice acceptor variant pathogenic Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNRNPK
Accession:XM_005251965
Location:INTRON

Gene Symbol:HNRNPK
Accession:NM_001318186
Location:INTRON

Gene Symbol:HNRNPK
Accession:NM_031262
Location:INTRON

Gene Symbol:HNRNPK
Accession:NM_031263
Location:INTRON

Gene Symbol:HNRNPK
Accession:XM_005251960
Location:INTRON

Gene Symbol:HNRNPK
Accession:NM_001318187
Location:INTRON

Gene Symbol:HNRNPK
Accession:XM_005251963
Location:INTRON

Gene Symbol:HNRNPK
Accession:NM_002140
Location:INTRON

Gene Symbol:HNRNPK
Accession:NM_001318188
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000598720 CLINVAR
dbSNP (RS) rs1554698470 CLINVAR
MedGen C4225274 CLINVAR
NCBI Gene HNRNPK CLINVAR
OMIM 600712 CLINVAR
  616580 CLINVAR