Genomic variant #0000173226

Individual ID 00106929
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.100656659C>G
DNA change (hg38) g.101401671C>G
Published as -
ISCN -
DB-ID GLA_000058
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 LOVD-team, but with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GLA NM_000169.2 +/. 3 c.508G>C - r.(?) p.(Asp170His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107400 DNA SEQ - - GLA 1 LOVD-team, but with Curator vacancy