RGD:12840905 Rat Genome Database

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Variant: RGD:12840905 -  Homo sapiens

RGD ID: 12840905
RS ID: rs377040175
ClinVar ID: CV378692
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127895338  TXNRD2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 19,868,126
GRCh38 22 19,880,603
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352300.2:c.1179+19C>T
NM_006440.5:c.1182+19C>T
LRG_417:g.66234C>T
NG_011835.1:g.66234C>T
More... 		08/08/2017 intron variant likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TXNRD2
Accession:NM_001282512
Location:INTRON

Gene Symbol:TXNRD2
Accession:NM_001352301
Location:INTRON

Gene Symbol:TXNRD2
Accession:NM_006440
Location:INTRON

Gene Symbol:TXNRD2
Accession:NM_001352300
Location:INTRON

Gene Symbol:TXNRD2
Accession:NM_001352302
Location:INTRON

Gene Symbol:TXNRD2
Accession:NM_001352303
Location:INTRON

Gene Symbol:TXNRD2
Accession:NR_147957
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000431597 CLINVAR
  RCV002525512 CLINVAR
dbSNP (RS) rs377040175 CLINVAR
MedGen C0007193 CLINVAR
  CN169374 CLINVAR
NCBI Gene TXNRD2 CLINVAR
OMIM 606448 CLINVAR
SNOMED CT 195021004 CLINVAR