Variant #0000824278 (NC_000023.10:g.17394125dup, NHS(NM_198270.2):c.245dup)

Individual ID 00392274
Chromosome X
Allele Unknown
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.17394125dup
DNA change (hg38) g.17376002dup
Published as NHS c.245dup, p.(Arg3659Ter)
ISCN -
DB-ID NHS_000127 See all 2 reported entries
Variant remarks hemizygous
Reference PubMed: Bell 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
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 2021-11-22 09:44:22 +01:00 (CET)
Date last edited 2021-11-22 09:46:54 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NHS NM_198270.2 +/. - c.245dup r.(?) p.(Pro83Alafs*100)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000393516 DNA SEQ-NG blood targeted next-generation sequencing NHS 1 LOVD