RGD:11631606 Rat Genome Database

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Variant: RGD:11631606 -  Homo sapiens

RGD ID: 11631606
RS ID: rs76905919
ClinVar ID: CV351802
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 50,304,068
GRCh38 22 49,910,420
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.13039G>A
NC_000022.11:g.49910420C>T
NC_000022.10:g.50304068C>T
NM_024105.4:c.469+14G>A
More...
11/15/2021 intron variant conflicting interpretations of pathogenicity|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:INTRON

Gene Symbol:ALG12
Accession:XM_017028936
Location:INTRON

Gene Symbol:ALG12
Accession:XM_017028937
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000383493 CLINVAR
dbSNP (RS) rs76905919 CLINVAR
MedGen C2931001 CLINVAR
NCBI Gene ALG12 CLINVAR
OMIM 607143 CLINVAR
  607144 CLINVAR
SNOMED CT 711155008 CLINVAR