RGD:11590396 Rat Genome Database

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Variant: RGD:11590396 -  Homo sapiens

RGD ID: 11590396
RS ID: rs41265971
ClinVar ID: CV288317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GIGYF2  KCNJ13  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 233,632,140
GRCh38 2 232,767,430
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002242.4:c.*761C>T
NG_016742.1:g.14136C>T
NC_000002.12:g.232767430G>A
NC_000002.11:g.233632140G>A
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ13
Accession:XM_047444253
Location:3UTRS;EXON

Gene Symbol:KCNJ13
Accession:NM_001172417
Location:3UTRS;EXON

Gene Symbol:KCNJ13
Accession:NM_002242
Location:3UTRS;EXON

Gene Symbol:KCNJ13
Accession:NM_001172416
Location:3UTRS;EXON

Gene Symbol:GIGYF2
Accession:NM_001103146
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_015575
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103148
Location:INTRON

Gene Symbol:GIGYF2
Accession:NM_001103147
Location:INTRON

Gene Symbol:GIGYF2
Accession:NR_103494
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103493
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103492
Location:INTRON;NON-CODING

Gene Symbol:GIGYF2
Accession:NR_103495
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000318858 CLINVAR
dbSNP (RS) rs41265971 CLINVAR
MedGen C3280062 CLINVAR
NCBI Gene GIGYF2 CLINVAR
  KCNJ13 CLINVAR
OMIM 603208 CLINVAR
  612003 CLINVAR
  614186 CLINVAR