Variant #0000575092 (NC_000023.10:g.17394190_17394225del, NHS(NM_198270.2):c.310_345del)

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.17394190_17394225del
DNA change (hg38) g.17376067_17376102del
Published as NHS(NM_001291867.1):c.310_345del (p.P104_A115del), NHS(NM_001291867.2):c.310_345del (p.P104_A115del), NHS(NM_198270.2):c.303_338del (p.(Ala103_Al...))
ISCN -
DB-ID NHS_000021 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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NHS NM_198270.2 -/. - c.310_345del r.(?) p.(Pro104_Ala115del)