RGD:28868345 Rat Genome Database

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Variant: RGD:28868345 -  Homo sapiens

RGD ID: 28868345
RS ID: rs1952724925
ClinVar ID: CV869060
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNPTAB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 102,139,572
GRCh38 12 101,745,794
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.11:g.102139572G>A
NM_024312.4:c.*1370C>T
NG_021243.1:g.90074C>T
NC_000012.12:g.101745794G>A
More... 		01/12/2018 3 prime utr variant 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; Type III Mucolipidosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNPTAB
Accession:XM_011538731
Location:3UTRS;EXON

Gene Symbol:GNPTAB
Accession:NM_024312
Location:3UTRS;EXON

Gene Symbol:GNPTAB
Accession:XM_006719593
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001112415 CLINVAR
  RCV001112416 CLINVAR
dbSNP (RS) rs1952724925 CLINVAR
MedGen C0033788 CLINVAR
  C2673377 CLINVAR
NCBI Gene GNPTAB CLINVAR
OMIM 252500 CLINVAR
  252600 CLINVAR
  607840 CLINVAR
SNOMED CT 65764006 CLINVAR