rs576979416 Rat Genome Database

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Variant: rs576979416 -  Homo sapiens

RGD ID: 11605165
RS ID: rs576979416
ClinVar ID: CV316752
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127816176  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 131,709,968
GRCh38 9 128,947,689
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_744t1:c.-386C>A
LRG_744:g.5045C>A
NG_017009.1:g.5045C>A
NC_000009.12:g.128947689G>T
More... 		01/13/2018 5 prime utr variant uncertain significance Carbohydrate deficient glycoprotein syndrome type 1m; CDG Im; Congenital disorder of glycosylation type 1M; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; DK1 DEFICIENCY; DK1-CDG; DOLICHOL KINASE DEFICIENCY; DOLK-congenital disorder of glycosylation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000316808 CLINVAR
dbSNP (RS) rs576979416 CLINVAR
MedGen C1835849 CLINVAR
NCBI Gene DOLK CLINVAR
OMIM 610746 CLINVAR
  610768 CLINVAR
SNOMED CT 718712005 CLINVAR