RGD:405100581 Rat Genome Database

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Variant: RGD:405100581 -  Homo sapiens

RGD ID: 405100581
ClinVar ID: CV2947887
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FERMT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 6,096,710
GRCh38 20 6,116,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017671.5:c.152-19T>C
NG_016213.1:g.12482T>C
NC_000020.11:g.6116063A>G
NC_000020.10:g.6096710A>G
 01/01/2024 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FERMT1
Accession:XM_047440260
Location:5UTRS;INTRON

Gene Symbol:FERMT1
Accession:XM_024451935
Location:INTRON

Gene Symbol:FERMT1
Accession:XM_047440259
Location:INTRON

Gene Symbol:FERMT1
Accession:NM_017671
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003665968 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FERMT1 CLINVAR
OMIM 607900 CLINVAR