RGD:15153936 Rat Genome Database

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Variant: RGD:15153936 -  Homo sapiens

RGD ID: 15153936
RS ID: rs9926432
ClinVar ID: CV779750
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTG  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 1,411,805
GRCh38 16 1,361,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032520.5:c.233+7G>T
NG_016985.1:g.14906G>T
NG_033129.1:g.57901C>A
NC_000016.10:g.1361804G>T
More...
12/06/2020 intron variant benign|likely benign 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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000968639 CLINVAR
  RCV001273753 CLINVAR
dbSNP (RS) rs9926432 CLINVAR
MedGen C1854896 CLINVAR
  C3661900 CLINVAR
NCBI Gene GNPTG CLINVAR
OMIM 252605 CLINVAR
  607838 CLINVAR