RGD:11625295 Rat Genome Database

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Variant: RGD:11625295 -  Homo sapiens

RGD ID: 11625295
RS ID: rs192009509
ClinVar ID: CV337829
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 31,013,304
GRCh38 22 30,617,317
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.15144C>T
NG_007263.1:g.15144C>T
NC_000022.11:g.30617317C>T
NC_000022.10:g.31013304C>T
More... 		02/01/2024 intron variant benign|likely benign|uncertain significance infancy <1 / 1 000 000 none provided; 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_001184726
Location:INTRON

Gene Symbol:TCN2
Accession:NM_000355
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000396915 CLINVAR
  RCV003884500 CLINVAR
dbSNP (RS) rs192009509 CLINVAR
MedGen C0342701 CLINVAR
  C3661900 CLINVAR
NCBI Gene TCN2 CLINVAR
OMIM 275350 CLINVAR
  613441 CLINVAR
SNOMED CT 237934001 CLINVAR