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
Date created 2021-09-29 13:19:55 +02:00 (CEST)
Date last edited N/A
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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