Variant #0000261017 (NC_000022.10:g.36662046_36662051del, NM_145343.2:c.1212_1217del (APOL1))

Chromosome 22
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.36662046_36662051del
DNA change (hg38) g.36266000_36266005del
Published as APOL1(NM_003661.4):c.1164_1169delTTATAA (p.N388_Y389del), APOL1(NM_145343.2):c.1212_1217delTTATAA (p.N404_Y405del)
ISCN -
DB-ID APOL1_000018
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) Retrieve
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2024-02-26 20:06:56 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APOL1 NM_145343.2 +?/. - c.1212_1217del r.(?) p.(Asn404_Tyr405del)


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