Variant #0000002693 (NC_000023.11:g.101399747C>T, NC_000023.11(NM_000169.2):c.640-801G>A (GLA))

Individual ID 00000607
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.101399747C>T
Published as -
Reference Kung-Hao Liang et al.(2020)
DB-ID GLA_000002
dbSNP ID rs199473684
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-05-03 12:14:26 +08:00 (CST)
Date last edited 2021-08-01 14:17:23 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
GLA NM_000169.2 +/. - c.640-801G>A IVS4+919G>A r.(=) p.(=) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000673 DNA SEQ GLA 1 Nur Aisyah Athirah