Variant #0000130203 (NC_000014.8:g.35182316del, NM_138638.4:c.338del (CFL2))

Individual ID 00081005
Chromosome 14
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35182316del
DNA change (hg38) g.34713110del
Published as -
ISCN -
DB-ID CFL2_000014
Variant remarks -
Reference PubMed: Trujillano 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Daniel Trujillano
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-09-07 13:24:08 +02:00 (CEST)
Date last edited 2024-07-28 15:50:06 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CFL2 NM_138638.4 +?/. - c.338del r.(?) p.(Ser113Thrfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081117 DNA SEQ;SEQ-NG - - CFL2 1 Daniel Trujillano


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