RGD:127314381 Rat Genome Database

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Variant: RGD:127314381 -  Homo sapiens

RGD ID: 127314381
RS ID: rs1182006462
ClinVar ID: CV1126742
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALK1  LOC127887957  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,754,393
GRCh38 17 75,758,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1430t1:c.1005G>T
NM_000154.2:c.1005G>T
NM_001381985.1:c.1005G>T
LRG_1430:g.11888G>T
More... 		09/15/2020 synonymous variant likely benign 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_000154
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 335
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSE
GADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEV
SCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL*

Gene Symbol:GALK1
Accession:NM_001381985
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 335
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELMTVLVGSPRKDGLVSLLTTSE
GADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAAPLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDS
GTIAARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDYRAFGRLMVESHRSLRDDYEV
SCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASAAPHAMRHIQEHYGGTATFYLSQAADGAKVLCL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001464942 CLINVAR
dbSNP (RS) rs1182006462 CLINVAR
MedGen C0268155 CLINVAR
NCBI Gene GALK1 CLINVAR
OMIM 230200 CLINVAR
  604313 CLINVAR
SNOMED CT 124302001 CLINVAR