RGD:10052714 Rat Genome Database

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Variant: RGD:10052714 -  Homo sapiens

RGD ID: 10052714
RS ID: rs759284637
ClinVar ID: CV195209
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALK1  LOC127887957  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,754,611
GRCh38 17 75,758,530
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008079.1:g.11670C>T
NC_000017.11:g.75758530G>A
NC_000017.10:g.73754611G>A
NP_000145.1:p.Thr288Met
More... 		05/28/2019 missense variant conflicting interpretations of pathogenicity|uncertain significance Galactokinase deficiency with cataracts; Galactosemia 2; GALACTOSEMIA II; Hereditary galactokinase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GALK1
Accession:NM_000154
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSE
GADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRMAQAAAALRRGDYRAFGRLMVESHRSLRDDYEV
SCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL*

Gene Symbol:GALK1
Accession:NM_001381985
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSE
GADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRMAQAAAALRRGDYRAFGRLMVESHRSLRDDYEV
SCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL*
Variant Samples
Additional References at PubMed
PMID:11139256   PMID:12694189   PMID:21264483   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000179261 CLINVAR
  RCV000670855 CLINVAR
dbSNP (RS) rs759284637 CLINVAR
MedGen C0268155 CLINVAR
  C3661900 CLINVAR
NCBI Gene GALK1 CLINVAR
OMIM 230200 CLINVAR
  604313 CLINVAR
SNOMED CT 124302001 CLINVAR