RGD:11660729 Rat Genome Database

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Variant: RGD:11660729 -  Homo sapiens

RGD ID: 11660729
RS ID: rs886057616
ClinVar ID: CV352661
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 50,311,908
GRCh38 22 49,918,260
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008927.1:g.5199C>T
NC_000022.11:g.49918260G>A
NC_000022.10:g.50311908G>A
NM_024105.4:c.-79+3C>T
More... 		06/14/2016 intron variant uncertain significance ALG12-CDG; CDG 1G; CDG Ig; Congenital disorder of glycosylation, type Ig
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALG12
Accession:NM_024105
Location:5UTRS;INTRON

Gene Symbol:ALG12
Accession:XM_017028936
Location:5UTRS;INTRON

Gene Symbol:ALG12
Accession:XM_017028937
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000369875 CLINVAR
dbSNP (RS) rs886057616 CLINVAR
MedGen C2931001 CLINVAR
NCBI Gene ALG12 CLINVAR
OMIM 607143 CLINVAR
  607144 CLINVAR
SNOMED CT 711155008 CLINVAR