Variant #0000089023 (NC_000023.10:g.68836528_68836531del, NM_001399.4:c.376_379del (EDA))

Individual ID 00058485
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.68836528_68836531del
DNA change (hg38) g.69616684_69616687del
Published as 376_379del4
ISCN -
DB-ID EDA_000040
Variant remarks -
Reference PubMed: Wohlfart 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/124 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Sigrun Maier-Wohlfart
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-01-27 13:07:51 +01:00 (CET)
Date last edited 2020-04-21 16:59:08 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EDA NM_001399.4 +/. 1 c.376_379del r.(?) p.(Asp126Profs*10)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058448 DNA SEQ - - EDA 1 Sigrun Maier-Wohlfart


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