Variant #0000300043 (NC_000023.10:g.17743940C>T, NHS(NM_198270.2):c.1651C>T)

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.17743940C>T
DNA change (hg38) g.17725820C>T
Published as NHS(NM_001136024.2):c.1183C>T (p.(Pro395Ser)), NHS(NM_198270.4):c.1651C>T (p.P551S)
ISCN -
DB-ID NHS_000035 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02482 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     
NHS NM_198270.2 -/. - c.1651C>T r.(?) p.(Pro551Ser)