Variant #0000451428 (NC_000023.10:g.153608066_153608124del, NM_000117.2:c.99_157del (EMD))

Individual ID 00216134
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.153608066_153608124del
DNA change (hg38) g.154379706_154379764del
Published as 59nt del g.329_388del
ISCN -
DB-ID EMD_000088
Variant remarks -
Reference Wehnert (1999) Hum.Genet. 104:195
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2004-12-07 21:00:05 +01:00 (CET)
Date last edited 2019-01-20 16:34:15 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EMD NM_000117.2 +/. 2 c.99_157del r.(?) p.(Tyr34Valfs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000217203 DNA SEQ - - EMD 1 Johan den Dunnen


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