RGD:11631886 Rat Genome Database

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Variant: RGD:11631886 -  Homo sapiens

RGD ID: 11631886
RS ID: rs566953264
ClinVar ID: CV350959
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130065345  PANK2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 3,870,390
GRCh38 20 3,889,743
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008131.3:g.5905G>C
NC_000020.11:g.3889743G>C
NC_000020.10:g.3870390G>C
NM_153638.2:c.628+15G>C
More... 		03/20/2022 2kb upstream variant|intron variant conflicting interpretations of pathogenicity|uncertain significance all ages 1-9 / 1 000 000 Hallervorden-Spatz disease; HARP SYNDROME; Neuroaxonal dystrophy, late infantile; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PANK2
Accession:NM_001324191
Location:5UTRS;INTRON

Gene Symbol:PANK2
Accession:NM_024960
Location:5UTRS;INTRON

Gene Symbol:PANK2
Accession:NM_001324192
Location:INTRON

Gene Symbol:PANK2
Accession:NM_001386393
Location:INTRON

Gene Symbol:PANK2
Accession:NM_153640
Location:INTRON

Gene Symbol:PANK2
Accession:NM_153638
Location:INTRON

Gene Symbol:PANK2
Accession:NM_001324193
Location:INTRON

Gene Symbol:PANK2
Accession:NR_136715
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000391971 CLINVAR
dbSNP (RS) rs566953264 CLINVAR
MedGen C0018523 CLINVAR
NCBI Gene LOC130065345 CLINVAR
  PANK2 CLINVAR
OMIM 234200 CLINVAR
  606157 CLINVAR
SNOMED CT 2992000 CLINVAR