RGD:12896084 Rat Genome Database

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Variant: RGD:12896084 -  Homo sapiens

RGD ID: 12896084
RS ID: rs3793247
ClinVar ID: CV389816
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FKBP14  FKBP14-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 30,053,679
GRCh38 7 30,014,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_454t1:c.*672C>T
LRG_454:g.17739C>T
NG_032173.1:g.17739C>T
NC_000007.14:g.30014063G>A
More... 		03/29/2016 3 prime utr variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FKBP14
Accession:NM_017946
Location:3UTRS;EXON

Gene Symbol:FKBP14
Accession:NR_046478
Location:EXON;NON-CODING

Gene Symbol:FKBP14
Accession:NR_046479
Location:EXON;NON-CODING

Gene Symbol:FKBP14
Accession:XM_047420550
Location:INTRON

Gene Symbol:FKBP14-AS1
Accession:NR_187577
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000454861 CLINVAR
dbSNP (RS) rs3793247 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FKBP14 CLINVAR
  FKBP14-AS1 CLINVAR
OMIM 614505 CLINVAR