RGD:11612486 Rat Genome Database

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Variant: RGD:11612486 -  Homo sapiens

RGD ID: 11612486
RS ID: rs112056979
ClinVar ID: CV330109
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTAB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 102,179,778
GRCh38 12 101,786,000
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021243.1:g.49868T>C
NC_000012.12:g.101786000A>G
NC_000012.11:g.102179778A>G
NM_024312.5:c.571+12T>C
More... 		12/13/2021 intron variant benign|likely benign|uncertain significance 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; 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:NM_024312
Location:INTRON

Gene Symbol:GNPTAB
Accession:XM_006719593
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000259739 CLINVAR
  RCV000356806 CLINVAR
  RCV002056255 CLINVAR
dbSNP (RS) rs112056979 CLINVAR
MedGen C0033788 CLINVAR
  C2673377 CLINVAR
NCBI Gene GNPTAB CLINVAR
OMIM 252500 CLINVAR
  252600 CLINVAR
  607840 CLINVAR
SNOMED CT 65764006 CLINVAR