Variant #0000597867 (NC_000020.10:g.34022221del, GDF5(NM_000557.2):c.992del)

Individual ID 00265899
Chromosome 20
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.34022221del
DNA change (hg38) g.35434423del
Published as -
ISCN -
DB-ID GDF5_000021
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gemeinschaftspraxis für Humangenetik Dresden
Database submission license No license selected
Created by Gemeinschaftspraxis für Humangenetik Dresden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GDF5 NM_000557.2 +/. - c.992del r.(?) p.(Arg331Profs*122)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267019 DNA SEQ - - GDF5 1 Gemeinschaftspraxis für Humangenetik Dresden