Genomic variant #0000173192

Individual ID 00106895
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.100653495C>G
DNA change (hg38) g.101398507C>G
Published as -
ISCN -
DB-ID GLA_000024
Variant remarks -
Reference PubMed: Shabbeer 2002
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 +/. 6 c.862G>C r.(?) p.(Ala288Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107366 DNA SEQ - - GLA 1 GVsharedLOVD, with Curator vacancy