Variant #0000876427 (NC_000011.9:g.63988121C>T, NM_031471.5:c.1525C>T (FERMT3))

Individual ID 00415657
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.63988121C>T
DNA change (hg38) g.64220649C>T
Published as NM_178443.2:c.1537C>T
ISCN -
DB-ID FERMT3_000061 See all 15 reported entries
Variant remarks -
Reference PubMed: Mory 2008, Journal: Mory 2008, PubMed: van de Vijver 2012, Journal: van de Vijver 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-08-15 17:50:58 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FERMT3 NM_031471.5 +/. - c.1525C>T r.(?) p.(Arg509Ter)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416938 DNA SEQ - - FERMT3 1 Johan den Dunnen


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