Variant #0000619226 (NC_000023.10:g.15333546C>T, PIGA(NM_002641.3):c.*6082G>A)

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.15333546C>T
DNA change (hg38) g.15315424C>T
Published as ASB11(NM_080873.2):c.181+1G>A
ISCN -
DB-ID ASB11_000022
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) 0.00037 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     
ASB11 NM_001012428.2 -?/. - c.-938G>A r.(?) p.(=)
PIGA NM_002641.3 -?/. - c.*6082G>A r.(=) p.(=)