RGD:8568467 Rat Genome Database

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Variant: RGD:8568467 -  Homo sapiens

RGD ID: 8568467
RS ID: rs2139956292
ClinVar ID: CV39574
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 88,414,071
GRCh38 14 87,947,727
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
NM_001201402.2:c.1411+1G>A
NM_001201401.2:c.1420+1G>A
NM_000153.4:c.1489+1G>A
NG_011853.3:g.50837G>A
More... 		09/05/2013 splice donor variant pathogenic adolescent|neonatal|variable 1-9 / 1 000 000|1-9 / 100 000 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_001424077
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424074
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424072
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GALC
Accession:NM_001201401
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424076
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424073
Location:INTRON

Gene Symbol:GALC
Accession:NM_000153
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424075
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424071
Location:INTRON

Gene Symbol:GALC
Accession:XM_047431199
Location:INTRON

Gene Symbol:GALC
Accession:NM_001201402
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:20886637  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023591 CLINVAR
dbSNP (RS) rs2139956292 CLINVAR
MedGen C0023521 CLINVAR
NCBI Gene GALC CLINVAR
OMIM 245200 CLINVAR
  606890 CLINVAR
OMIM Allele 606890.0006 CLINVAR
SNOMED CT 192782005 CLINVAR