Variant #0001037132 (NC_000009.11:g.111693404C>T, NM_003640.3:c.23G>A (IKBKAP))

Chromosome 9
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.111693404C>T
DNA change (hg38) -
Published as ELP1(NM_003640.3):c.23G>A (p.R8Q), ELP1(NM_003640.5):c.23G>A (p.R8Q)
ISCN -
DB-ID IKBKAP_000053 See all 2 reported entries
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) 3.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IKBKAP NM_003640.3 ?/. - c.23G>A r.(?) p.(Arg8Gln)
FAM206A NM_017832.3 ?/. - c.-3363C>T r.(?) p.(=)


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