RGD:15141291 Rat Genome Database

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Variant: RGD:15141291 -  Homo sapiens

RGD ID: 15141291
RS ID: rs764273994
ClinVar ID: CV743650
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX14  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 10,678,383
GRCh38 1 10,618,326
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.10678383C>T
NM_004565.3:c.299-6C>T
NC_000001.11:g.10618326C>T
NM_004565.2:c.299-6C>T
More... 		06/16/2018 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX14
Accession:XM_047422545
Location:INTRON

Gene Symbol:PEX14
Accession:XM_011541579
Location:INTRON

Gene Symbol:PEX14
Accession:XM_047422544
Location:INTRON

Gene Symbol:PEX14
Accession:XM_011541578
Location:INTRON

Gene Symbol:PEX14
Accession:XM_011541580
Location:INTRON

Gene Symbol:PEX14
Accession:XM_047422543
Location:INTRON

Gene Symbol:PEX14
Accession:XM_047422542
Location:INTRON

Gene Symbol:PEX14
Accession:XM_011541577
Location:INTRON

Gene Symbol:PEX14
Accession:XM_047422546
Location:INTRON

Gene Symbol:PEX14
Accession:NM_004565
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002065680 CLINVAR
dbSNP (RS) rs764273994 CLINVAR
MedGen C1866257 CLINVAR
NCBI Gene PEX14 CLINVAR
OMIM 601791 CLINVAR