Genomic variant #0000173175

Individual ID 00106878
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.100653450T>A
DNA change (hg38) g.101398462T>A
Published as -
ISCN -
DB-ID GLA_000656
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Amelia Morrone




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
GLA NM_000169.2 ?/. 6 c.907A>T - r.(?) p.(Ile303Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107349 DNA SEQ - - GLA 1 Amelia Morrone