RGD:13785192 Rat Genome Database

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Variant: RGD:13785192 -  Homo sapiens

RGD ID: 13785192
RS ID: rs1555450716
ClinVar ID: CV547720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 1,402,161
GRCh38 16 1,352,160
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016985.1:g.5262G>A
NC_000016.10:g.1352160G>A
NC_000016.9:g.1402161G>A
NM_032520.5:c.110+1G>A
More... 		12/29/2017 splice donor variant likely pathogenic ML III GAMMA; ML IIIC; MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C; MUCOLIPIDOSIS III, IRANIAN VARIANT FORM; MUCOLIPIDOSIS III, VARIANT FORM; Mucolipidosis type III gamma; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNPTG
Accession:NM_032520
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:19370764   PMID:20301784   PMID:28492532   PMID:32651481  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000671760 CLINVAR
  RCV001861807 CLINVAR
dbSNP (RS) rs1555450716 CLINVAR
MedGen C1854896 CLINVAR
  C3661900 CLINVAR
NCBI Gene GNPTG CLINVAR
OMIM 252605 CLINVAR
  607838 CLINVAR