Variant #0000408755 (NC_000023.10:g.152031180G>A, NSDHL(NM_015922.2):c.455G>A)

Individual ID 00183664
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.152031180G>A
DNA change (hg38) g.152862636G>A
Published as -
ISCN -
DB-ID NSDHL_000013
Variant remarks -
Reference PubMed: Martinez 2017, Journal: Martinez 2017
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 +/. 5 c.455G>A r.(?) p.(Gly152Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184632 DNA SEQ;SEQ-NG - 1256 gene panel NSDHL 1 Johan den Dunnen