Variant #0000574207 (NC_000023.10:g.152027402G>A, NSDHL(NM_015922.2):c.356G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.152027402G>A
DNA change (hg38) g.152858858G>A
Published as NSDHL(NM_001129765.1):c.356G>A (p.(Arg119Lys), p.R119K), NSDHL(NM_015922.3):c.356G>A (p.R119K)
ISCN -
DB-ID NSDHL_000008 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00051 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSDHL NM_015922.2 -?/. - c.356G>A r.(?) p.(Arg119Lys)