Variant #0000458857 (NC_000023.10:g.152018953C>G, NSDHL(NM_015922.2):c.253C>G)

Individual ID 00225455
Chromosome X
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.152018953C>G
DNA change (hg38) g.152850409C>G
Published as -
ISCN -
DB-ID NSDHL_000014
Variant remarks -
Reference Journal: Reynhout 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSDHL NM_015922.2 ?/. - c.253C>G r.(?) p.(Leu85Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226534 DNA SEQ;SEQ-NG - singleton WES TONSL 6 Johan den Dunnen