Variant #0000522597 (NC_000004.11:g.436534T>C, ABCA11P(NR_002451.2):n.357-15772A>G)

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.436534T>C
DNA change (hg38) g.442745T>C
Published as ZNF721(NM_133474.4):c.1722A>G (p.V574=)
ISCN -
DB-ID ABCA11P_000010
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) 0.00088 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZNF721 NM_133474.2 -?/. - c.1722A>G r.(?) p.(Val574=)
ABCA11P NR_002451.2 -?/. - n.357-15772A>G r.(?) -