Variant #0000184936 (NC_000023.10:g.(68836549_69176876)_(69176983_69243067)dup, NC_000023.10(NM_001399.4):c.(396+1_397-1)_(502+1_503-1)dup (EDA))

Individual ID 00114981
Chromosome X
Allele Unknown
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.(68836549_69176876)_(69176983_69243067)dup
DNA change (hg38) g.(69616705_69957026)_(69957133_70023217)dup
Published as -
ISCN -
DB-ID EDA_000064
Variant remarks Testing revealed a partial duplication including exon 2.
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Alizabeth Woodruff
Database submission license No license selected
Created by Alizabeth Woodruff
Date created 2013-02-15 17:13:50 +01:00 (CET)
Date last edited 2020-04-22 10:30:45 +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 +/. 1i_2i c.(396+1_397-1)_(502+1_503-1)dup r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115438 DNA SEQ - - EDA 1 Johan den Dunnen


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