Variant #0000522592 (NC_000004.11:g.435770_435774del, ABCA11P(NR_002451.2):n.357-15011_357-15007del)

Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.435770_435774del
DNA change (hg38) g.441981_441985del
Published as ZNF721(NM_133474.4):c.2483_2487delGGAGA (p.R828Nfs*11)
ISCN -
DB-ID ABCA11P_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZNF721 NM_133474.2 ?/. - c.2483_2487del r.(?) p.(Arg828AsnfsTer11)
ABCA11P NR_002451.2 ?/. - n.357-15011_357-15007del r.(?) -