RGD:13789378 Rat Genome Database

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Variant: RGD:13789378 -  Homo sapiens

RGD ID: 13789378
RS ID: rs750524447
ClinVar ID: CV547612
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALC  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 88,434,678
GRCh38 14 87,968,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.87968334C>A
NC_000014.8:g.88434678C>A
NM_000153.4:c.908+1G>T
NM_000153.3:c.908+1G>T
More... 		03/07/2017 splice donor variant likely pathogenic 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_001201402
Location:INTRON

Gene Symbol:GALC
Accession:NM_001201401
Location:INTRON

Gene Symbol:GALC
Accession:NM_000153
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GALC
Accession:XM_047431199
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424076
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424077
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424075
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424072
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424073
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424071
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424074
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000665967 CLINVAR
dbSNP (RS) rs750524447 CLINVAR
MedGen C0023521 CLINVAR
NCBI Gene GALC CLINVAR
OMIM 245200 CLINVAR
  606890 CLINVAR
SNOMED CT 192782005 CLINVAR