RGD:13783079 Rat Genome Database

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Variant: RGD:13783079 -  Homo sapiens

RGD ID: 13783079
RS ID: rs1555451866
ClinVar ID: CV547735
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTG  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 1,412,206
GRCh38 16 1,362,205
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.15307G>C
NC_000016.10:g.1362205G>C
NC_000016.9:g.1412206G>C
NM_032520.5:c.412-1G>C
More...
09/26/2017 splice acceptor 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
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000669666 CLINVAR
dbSNP (RS) rs1555451866 CLINVAR
MedGen C1854896 CLINVAR
NCBI Gene GNPTG CLINVAR
OMIM 252605 CLINVAR
  607838 CLINVAR