RGD:28905519 Rat Genome Database

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Variant: RGD:28905519 -  Homo sapiens

RGD ID: 28905519
RS ID: rs144915547
ClinVar ID: CV878495
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALK1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,760,066
GRCh38 17 75,763,985
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000154.2:c.267G>T
NG_008079.2:g.6215G>T
NC_000017.11:g.75763985C>A
NC_000017.10:g.73760066C>A
More... 		10/12/2021 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: Q to H (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSE
GADEPQRLHFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEV
SCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL*

Gene Symbol:GALK1
Accession:NM_000154
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSE
GADEPQRLHFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEV
SCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001126561 CLINVAR
  RCV002556756 CLINVAR
dbSNP (RS) rs144915547 CLINVAR
MedGen C0268155 CLINVAR
  C0950123 CLINVAR
NCBI Gene GALK1 CLINVAR
OMIM 230200 CLINVAR
  604313 CLINVAR
SNOMED CT 124302001 CLINVAR