Genomic variant #0000036014

Individual ID 00016148
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100656740C>T
DNA change (hg38) g.101401752C>T
Published as -
ISCN -
DB-ID GLA_000014 See all 5 reported entries
Variant remarks -
Reference Vrijenhoek, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00085 View details
Owner Terry Vrijenhoek
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GLA NM_000169.2 +/. 3 c.427G>A r.(?) p.(Ala143Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016270 DNA SEQ;SEQ-NG leukocyte - GLA, MYBPC3, MYL3, TTN 5 Terry Vrijenhoek