RGD:156235167 Rat Genome Database

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Variant: RGD:156235167 -  Homo sapiens

RGD ID: 156235167
ClinVar ID: CV2108804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIS3L2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 233,075,131
GRCh38 2 232,210,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001257281.2:c.1204+16C>T
NM_152383.5:c.1204+16C>T
LRG_534:g.253839C>T
NG_032572.1:g.253839C>T
More... 		12/23/2021 intron variant likely benign Nephroblastomatosis fetal ascites macrosomia and wilms tumor; Renal hamartomas nephroblastomatosis and fetal gigantism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DIS3L2
Accession:NM_001257281
Location:INTRON

Gene Symbol:DIS3L2
Accession:NM_001257282
Location:INTRON

Gene Symbol:DIS3L2
Accession:NM_152383
Location:INTRON

Gene Symbol:DIS3L2
Accession:NR_046477
Location:INTRON;NON-CODING

Gene Symbol:DIS3L2
Accession:NR_046476
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002932991 CLINVAR
MedGen C0796113 CLINVAR
NCBI Gene DIS3L2 CLINVAR
OMIM 267000 CLINVAR
  614184 CLINVAR