Variant #0000880613 (NC_000007.13:g.72745699_72745720dup, NM_003602.4:c.508_529dup (FKBP6))

Individual ID 00418995
Chromosome 7
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.72745699_72745720dup
DNA change (hg38) g.73331696_73331717dup
Published as -
ISCN -
DB-ID FKBP6_000004 See all 3 reported entries
Variant remarks -
Reference PubMed: Wyrwoll 2022
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 2022-10-14 12:15:29 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FKBP6 NM_003602.4 +/. - c.508_529dup r.(?) p.(Phe177CysfsTer20)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000420293 DNA SEQ;SEQ-NG - - - 1 Johan den Dunnen


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