RGD:11614704 Rat Genome Database

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Variant: RGD:11614704 -  Homo sapiens

RGD ID: 11614704
RS ID: rs199511962
ClinVar ID: CV337809
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC121853040  TCN2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 31,003,285
GRCh38 22 30,607,298
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_116:g.5125A>G
NG_007263.1:g.5125A>G
NC_000022.11:g.30607298A>G
NC_000022.10:g.31003285A>G
More... 		06/14/2016 5 prime utr variant uncertain significance infancy <1 / 1 000 000 TC II DEFICIENCY; TCN2 DEFICIENCY; Transcolabamin II deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TCN2
Accession:NM_000355
Location:5UTRS;EXON

Gene Symbol:TCN2
Accession:NM_001184726
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000279279 CLINVAR
dbSNP (RS) rs199511962 CLINVAR
MedGen C0342701 CLINVAR
NCBI Gene LOC121853040 CLINVAR
  TCN2 CLINVAR
OMIM 275350 CLINVAR
  613441 CLINVAR
SNOMED CT 237934001 CLINVAR