RGD:11613182 Rat Genome Database

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Variant: RGD:11613182 -  Homo sapiens

RGD ID: 11613182
RS ID: rs138919458
ClinVar ID: CV339668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALC  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 88,399,625
GRCh38 14 87,933,281
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
NC_000014.9:g.87933281G>T
NC_000014.8:g.88399625G>T
NM_001201402.2:c.*1451C>A
NG_011853.2:g.65283C>A
More... 		06/14/2016 3 prime utr variant uncertain significance adolescent 1-9 / 1 000 000 Galactocerebrosidase deficiency; Globoid cell leukoencephalopathy; Krabbe leukodystrophy; Leukodystrophy, Globoid Cell
Disease Annotations     Click to see Annotation Detail View
Krabbe disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:GALC
Accession:NM_001201401
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:NM_001201402
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:XM_047431199
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:NM_001424072
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:NM_000153
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:NM_001424073
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:NM_001424076
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:NM_001424071
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:NM_001424075
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:NM_001424074
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:NM_001424077
Location:3UTRS;EXON

Gene Symbol:GALC
Accession:NR_187582
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265884 CLINVAR
dbSNP (RS) rs138919458 CLINVAR
MedGen C0023521 CLINVAR
NCBI Gene GALC CLINVAR
OMIM 245200 CLINVAR
  606890 CLINVAR
SNOMED CT 192782005 CLINVAR