Variant #0000873560 (NC_000023.10:g.17739693G>T, NHS(NM_198270.2):c.985G>T)

Individual ID 00414419
Chromosome X
Allele Unknown
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.17739693G>T
DNA change (hg38) g.17721573G>T
Published as NHS(NM_198270.2):c.985G>T(p.E329*)
ISCN -
DB-ID NHS_000141
Variant remarks -
Reference PubMed: Sun 2018
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency 186
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-28 13:16:36 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NHS NM_198270.2 +?/. - c.985G>T r.(?) p.(Glu329*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415699 DNA SEQ-NG-I blood - NHS 1 LOVD