Variant #0000623778 (NC_000017.10:g.7755305_7755307del, NM_001080424.1:c.4202_4204del (KDM6B))

Chromosome 17
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.7755305_7755307del
DNA change (hg38) g.7851987_7851989del
Published as KDM6B(NM_001080424.2):c.4202_4204delTCA (p.I1401del)
ISCN -
DB-ID CYB5D1_000006
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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2019-12-06 12:43:26 +01:00 (CET)
Date last edited 2021-02-08 18:36:18 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/. - c.4202_4204del r.(?) p.(Ile1401del)
LSMD1 NM_032356.3 ?/. - c.*4744_*4746del r.(=) p.(=)
CYB5D1 NM_144607.4 ?/. - c.-6148_-6146del r.(?) p.(=)
TMEM88 NM_203411.1 ?/. - c.-3088_-3086del r.(?) p.(=)


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