RGD:12739649 Rat Genome Database

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Variant: RGD:12739649 -  Homo sapiens

RGD ID: 12739649
RS ID: rs1057516816
ClinVar ID: CV358270
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALC  LOC127828184  LOC130056217  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 88,459,380
GRCh38 14 87,993,036
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.87993036G>C
NC_000014.8:g.88459380G>C
NP_000144.2:p.Tyr43Ter
NP_001188330.1:p.Tyr43Ter
More... 		01/31/2019 intron variant pathogenic|likely pathogenic 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_001424072
Location:5UTRS;EXON

Gene Symbol:GALC
Accession:NM_001424075
Location:5UTRS;EXON

Gene Symbol:GALC
Accession:NM_001424077
Location:5UTRS;EXON

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

Gene Symbol:GALC
Accession:NM_001201401
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGA*VLDDSDGLGREFDGIGAVSGGGPNFGASLHILKVEIG
GDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAK
RYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDA
KLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWV
SAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPEL
QVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSE
APNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVN
KGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGW
AAIGTHSFEFAQFDNFLVEATR*

Gene Symbol:GALC
Accession:NM_000153
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGA*VLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRS
QILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKG
FDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLD
AELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYG
RCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLP
YFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLP
PKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNL
TIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHF
TSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR*

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

Gene Symbol:GALC
Accession:XM_047431199
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:
Accession:
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424073
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424074
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7437911   PMID:9272171   PMID:16607461   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000410107 CLINVAR
dbSNP (RS) rs1057516816 CLINVAR
MedGen C0023521 CLINVAR
NCBI Gene GALC CLINVAR
  LOC130056217 CLINVAR
OMIM 245200 CLINVAR
  606890 CLINVAR
SNOMED CT 192782005 CLINVAR