Variant #0000304642 (NC_000023.10:g.152037592C>T, NSDHL(NM_015922.2):c.1054C>T)

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.152037592C>T
DNA change (hg38) g.152869048C>T
Published as NSDHL(NM_001129765.1):c.1054C>T (p.L352=), NSDHL(NM_015922.3):c.1054C>T (p.L352=)
ISCN -
DB-ID NSDHL_000011 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00485 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSDHL NM_015922.2 -?/. - c.1054C>T r.(?) p.(Leu352=)