RGD:8604598 Rat Genome Database

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Variant: RGD:8604598 -  Homo sapiens

RGD ID: 8604598
RS ID: rs397507562
ClinVar ID: CV49681
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTAB  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 102,151,089
GRCh38 12 101,757,311
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_021243.1:g.78557G>C
NC_000012.12:g.101757311C>G
NC_000012.11:g.102151089C>G
NM_024312.5:c.3336-1G>C
More... 		04/20/2020 splice acceptor variant|splice-3 pathogenic|likely pathogenic neonatal/infancy 1-9 / 1 000 000|<1 / 1 000 000 I cell disease; Inclusion cell disease; Leroy Disease; ML 2; ML 3 A; ML disorder type 2; ML II ALPHA/BETA; ML III; ML III ALPHA/BETA; ML IIIA; Mucolipidoses; Mucolipidosis 2; Mucolipidosis III Alpha/Beta; Mucolipidosis type 3A; N-acetylglucosamine 1phosphotransferase deficiency; Pseudo-Hurler polydystrophy; Type III Mucolipidosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNPTAB
Accession:XM_011538731
Location:INTRON

Gene Symbol:GNPTAB
Accession:XM_006719593
Location:INTRON

Gene Symbol:GNPTAB
Accession:NM_024312
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:19617216   PMID:20301728   PMID:25107912   PMID:28492532   PMID:30882951   PMID:32651481  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000034158 CLINVAR
  RCV001175027 CLINVAR
  RCV001852694 CLINVAR
dbSNP (RS) rs397507562 CLINVAR
MedGen C0026697 CLINVAR
  C2673377 CLINVAR
NCBI Gene GNPTAB CLINVAR
OMIM 252500 CLINVAR
  252600 CLINVAR
  607840 CLINVAR
SNOMED CT 65764006 CLINVAR
  70528007 CLINVAR