Genomic variant #0000173265

Individual ID 00106968
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.?
DNA change (hg38) -
Published as -
ISCN -
DB-ID GLA_000098
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) Genomic location of variant could not be determined
Owner GVsharedLOVD, with Curator vacancy




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLA NM_000169.2 +/. ? c.? r.(?) p.(F273K



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107439 DNA SEQ - - GLA 1 GVsharedLOVD, with Curator vacancy