RGD:11602754 Rat Genome Database

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Variant: RGD:11602754 -  Homo sapiens

RGD ID: 11602754
RS ID: rs10828415
ClinVar ID: CV321688
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTF1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 23,482,850
GRCh38 10 23,193,921
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009798.1:g.6391G>A
NC_000010.11:g.23193921G>A
NC_000010.10:g.23482850G>A
NM_178161.3:c.*15G>A
More... 		11/07/2021 3 prime utr variant benign Diabetes mellitus, permanent neonatal, with cerebellar agenesis; none provided; PANCREATIC AND CEREBELLAR AGENESIS; PANCREATIC HYPOPLASIA, CONGENITAL 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTF1A
Accession:NM_178161
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000293385 CLINVAR
  RCV001642924 CLINVAR
  RCV001795918 CLINVAR
dbSNP (RS) rs10828415 CLINVAR
MedGen C1836780 CLINVAR
  C3661900 CLINVAR
  C4014737 CLINVAR
NCBI Gene PTF1A CLINVAR
OMIM 607194 CLINVAR
  609069 CLINVAR
  615935 CLINVAR