Variant #0000810170 (NC_000023.10:g.153780361T>A, G6PD(NM_000402.3):c.-5276A>T)

Chromosome X
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.153780361T>A
DNA change (hg38) -
Published as IKBKG(NM_001099857.2):c.144T>A (p.P48=)
ISCN -
DB-ID IKBKG_000147
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Protein level     
G6PD NM_000402.3 -?/. - c.-5276A>T r.(?) p.(=) - -
G6PD NM_001042351.1 -?/. - c.-4687A>T r.(?) p.(=) - -
IKBKG NM_003639.3 -?/. - c.144T>A r.(?) p.(Pro48=) - -