Variant #0000169139 (NC_000007.13:g.(?_73428837)_(73643684_?)del, NM_000501.2:c.0 (ELN))

Individual ID 00103955
Chromosome 7
Allele Unknown
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.(?_73428837)_(73643684_?)del
DNA change (hg38) -
Published as g.73428837_73643684del
ISCN -
DB-ID ELN_000000
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Le Gall
Database submission license No license selected
Created by Le Gall
Date created 2017-04-25 11:05:52 +02:00 (CEST)
Date last edited 2017-05-05 20:07:23 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ELN NM_000501.2 +/. _1_33_ c.0 r.0 p.0
LIMK1 NM_002314.3 ?/. - c.0 r.0 p.0
LAT2 NM_014146.3 ?/. - c.0 r.0 p.0
EIF4H NM_022170.1 ?/. - c.0 r.0 p.0
MIR590 NR_030321.1 ?/. - n.0 r.0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104414 DNA FISH - - ELN, LAT2 2 Le Gall


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