Genomic variant #0000173244

Individual ID 00106947
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.100662728T>A
DNA change (hg38) g.101407740T>A
Published as D55V
ISCN -
DB-ID GLA_000077
Variant remarks -
Reference PubMed: Kuipers 2010, Journal: Kuipers 2010
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 LOVD-team, but with Curator vacancy




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GLA NM_000169.2 +/. 1 c.164A>T - r.(?) p.(Asp55Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107418 DNA SEQ - - GLA 1 LOVD-team, but with Curator vacancy