RGD:11653873 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:11653873 -  Homo sapiens

RGD ID: 11653873
RS ID: rs886048841
ClinVar ID: CV330053
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTAB  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 102,139,709
GRCh38 12 101,745,931
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.89937T>G
NC_000012.12:g.101745931A>C
NC_000012.11:g.102139709A>C
NM_024312.5:c.*1233T>G
More...
06/14/2016 3 prime utr variant uncertain significance I cell disease; Inclusion cell disease; Leroy Disease; ML 2; ML disorder type 2; ML II ALPHA/BETA; Mucolipidosis 2; N-acetylglucosamine 1phosphotransferase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNPTAB
Accession:NM_024312
Location:3UTRS;EXON

Gene Symbol:GNPTAB
Accession:XM_011538731
Location:3UTRS;EXON

Gene Symbol:GNPTAB
Accession:XM_006719593
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000313517 CLINVAR
  RCV000368237 CLINVAR
dbSNP (RS) rs886048841 CLINVAR
MedGen C2673377 CLINVAR
  CN239170 CLINVAR
NCBI Gene GNPTAB CLINVAR
OMIM 252500 CLINVAR
  607840 CLINVAR