Genomic variant #0000173254

Individual ID 00106957
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.100662750C>T
DNA change (hg38) g.101407762C>T
Published as -
ISCN -
DB-ID GLA_000087
Variant remarks -
Reference PubMed: Rodriguez-Mari 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner GVsharedLOVD, with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLA NM_000169.2 +/. ? c.142G>A r.(?) p.(Glu48Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107428 DNA SEQ - - GLA 1 GVsharedLOVD, with Curator vacancy