Variant #0000173188 (NC_000023.10:g.100653805C>G, GLA(NM_000169.2):c.769G>C)

Individual ID 00106891
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100653805C>G
DNA change (hg38) g.101398817C>G
Published as -
ISCN -
DB-ID GLA_000020
Variant remarks -
Reference Cooper 2000, HGOL
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLA NM_000169.2 +/. 5 c.769G>C r.(?) p.(Ala257Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107362 DNA SEQ - - GLA 1 Global Variome, with Curator vacancy