RGD:15145200 Rat Genome Database

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Variant: RGD:15145200 -  Homo sapiens

RGD ID: 15145200
RS ID: rs1037117075
ClinVar ID: CV788146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALC  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 88,448,595
GRCh38 14 87,982,251
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000153.4:c.583-8T>C
NG_011853.3:g.16313T>C
NC_000014.9:g.87982251A>G
NC_000014.8:g.88448595A>G
More... 		01/15/2019 intron variant likely benign 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:5UTRS;INTRON

Gene Symbol:GALC
Accession:NM_001424076
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GALC
Accession:NM_001201401
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424072
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424075
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424071
Location:INTRON

Gene Symbol:GALC
Accession:NM_001201402
Location:INTRON

Gene Symbol:GALC
Accession:NM_000153
Location:INTRON

Gene Symbol:GALC
Accession:XM_047431199
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424074
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424073
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000983620 CLINVAR
dbSNP (RS) rs1037117075 CLINVAR
MedGen C0023521 CLINVAR
NCBI Gene GALC CLINVAR
OMIM 245200 CLINVAR
  606890 CLINVAR
SNOMED CT 192782005 CLINVAR