Variant #0000812611 (NC_000023.10:g.17744345G>T, NHS(NM_198270.2):c.2056G>T)

Individual ID 00384308
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17744345G>T
DNA change (hg38) g.17726225G>T
Published as c.2056G>T, p.(Ala686Ser)
ISCN -
DB-ID NHS_000125 See all 2 reported entries
Variant remarks hemizygous
Reference PubMed: Wang 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00034 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NHS NM_198270.2 +?/. - c.2056G>T r.(?) p.(Ala686Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000385533 DNA SEQ-NG blood panel of 126 genes NHS 1 LOVD