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) |

Variant on transcripts
Screenings
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