RGD:28899295 Rat Genome Database

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Variant: RGD:28899295 -  Homo sapiens

RGD ID: 28899295
RS ID: rs541580127
ClinVar ID: CV878491
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALK1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,758,836
GRCh38 17 75,762,755
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008079.2:g.7445C>T
NM_000154.2:c.742C>T
NC_000017.11:g.75762755G>A
NC_000017.10:g.73758836G>A
More... 		10/20/2021 missense variant uncertain significance Galactokinase deficiency with cataracts; Galactosemia 2; GALACTOSEMIA II; Hereditary galactokinase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GALK1
Accession:NM_001381985
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSE
GADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVAWALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEV
SCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL*

Gene Symbol:GALK1
Accession:NM_000154
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSE
GADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVAWALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEV
SCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL*
Variant Samples
Additional References at PubMed
PMID:27307692   PMID:29770612  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001123902 CLINVAR
dbSNP (RS) rs541580127 CLINVAR
MedGen C0268155 CLINVAR
NCBI Gene GALK1 CLINVAR
OMIM 230200 CLINVAR
  604313 CLINVAR
SNOMED CT 124302001 CLINVAR