Variant #0000667472 (NC_000023.10:g.17705990C>T, NM_198270.2:c.694C>T (NHS))

Individual ID 00302949
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.17705990C>T
DNA change (hg38) g.17687870C>T
Published as NM_001136024.3:c.163C>T
ISCN -
DB-ID NHS_000103
Variant remarks -
Reference PubMed: Fieremans 2016
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation skewed X-inactivation (5:95 pat:mat)
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-05 09:01:06 +02:00 (CEST)
Date last edited 2020-06-05 09:14:29 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NHS NM_198270.2 +/. - c.694C>T r.(?) p.(Gln232*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304074 DNA SEQ;SEQ-NG - WES NHS 1 Johan den Dunnen


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