RGD:15129837 Rat Genome Database

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Variant: RGD:15129837 -  Homo sapiens

RGD ID: 15129837
RS ID: rs150225868
ClinVar ID: CV779529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FEZ1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 125,316,014
GRCh38 11 125,446,118
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005103.5:c.1163-7G>A
NC_000011.10:g.125446118C>T
NC_000011.9:g.125316014C>T
NM_005103.4:c.1163-7G>A
 05/15/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FEZ1
Accession:NM_005103
Location:INTRON

Gene Symbol:FEZ1
Accession:XM_005271735
Location:INTRON

Gene Symbol:FEZ1
Accession:XM_005271734
Location:INTRON

Gene Symbol:FEZ1
Accession:NM_022549
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000964326 CLINVAR
dbSNP (RS) rs150225868 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FEZ1 CLINVAR
OMIM 604825 CLINVAR