Variant #0000339477 (NC_000023.10:g.152018832T>G, NSDHL(NM_015922.2):c.132T>G)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.152018832T>G
DNA change (hg38) g.152850288T>G
Published as NSDHL(NM_001129765.1):c.132T>G (p.G44=)
ISCN -
DB-ID NSDHL_000001 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.88167 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSDHL NM_015922.2 -/. - c.132T>G r.(?) p.(Gly44=)