Variant #0000574595 (NC_000023.10:g.15333643T>C, PIGA(NM_002641.3):c.*5985A>G)

Chromosome X
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.15333643T>C
DNA change (hg38) g.15315521T>C
Published as ASB11(NM_080873.2):c.85A>G (p.K29E)
ISCN -
DB-ID ASB11_000021
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     
ASB11 NM_001012428.2 ?/. - c.-1035A>G r.(?) p.(=)
PIGA NM_002641.3 ?/. - c.*5985A>G r.(=) p.(=)