RGD:13215502 Rat Genome Database

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Variant: RGD:13215502 -  Homo sapiens

RGD ID: 13215502
RS ID: rs1555384318
ClinVar ID: CV427116
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALC  LOC130056217  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 88,459,315
GRCh38 14 87,992,971
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.87992971C>T
NC_000014.8:g.88459315C>T
p.G65E
NP_000144.2:p.Gly65Glu
More... 		07/28/2017 intron variant 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_001424075
Location:5UTRS;EXON

Gene Symbol:GALC
Accession:NM_001424072
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: G to E (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGEPNFGASLHILKVEIG
GDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAK
RYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDA
KLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWV
SAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEIPEL
QVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSE
APNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVN
KGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGW
AAIGTHSFEFAQFDNFLVEATR*

Gene Symbol:GALC
Accession:NM_000153
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGEATSRLLVNYPEPYRS
QILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKG
FDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLD
AELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYG
RCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLP
YFNVSQQFATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLP
PKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNL
TIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHF
TSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR*

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

Gene Symbol:GALC
Accession:NM_001424074
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424071
Location:INTRON

Gene Symbol:GALC
Accession:NM_001424073
Location:INTRON

Gene Symbol:GALC
Accession:NM_001201402
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GALC
Accession:XM_047431199
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000502588 CLINVAR
dbSNP (RS) rs1555384318 CLINVAR
MedGen C0023521 CLINVAR
NCBI Gene GALC CLINVAR
  LOC130056217 CLINVAR
OMIM 245200 CLINVAR
  606890 CLINVAR
SNOMED CT 192782005 CLINVAR