Variant #0000876471 (NC_000011.9:g.63987456del, NM_031471.5:c.1173del (FERMT3))

Individual ID 00415701
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.63987456del
DNA change (hg38) g.64219984del
Published as NM_178443.2:c.1185delT
ISCN -
DB-ID FERMT3_000069 See all 2 reported entries
Variant remarks -
Reference PubMed: Manukjan 2020, Journal: Manukjan 2020
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 2022-09-27 17:25:26 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FERMT3 NM_031471.5 +/. - c.1173del r.(?) p.(Asp393Thrfs*29)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416982 DNA SEQ - - FERMT3 1 Johan den Dunnen


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