Variant #0000156620 (NC_000022.10:g.21342346_21343919del, NC_000022.10(NM_006767.3):c.448-?_599+?del (LZTR1))

Individual ID 00095765
Chromosome 22
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.21342346_21343919del
DNA change (hg38) g.20988057_20989630del
Published as -
ISCN -
DB-ID LZTR1_000024
Variant remarks Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message.
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Beatrice Parfait
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2017-01-18 17:17:14 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LZTR1 NM_006767.3 +/. 5_7 c.448-?_599+?del r.448_599del p.Tyr150Glyfs*2



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000096165 DNA;RNA SEQ-NG;SEQ blood - LZTR1 1 Beatrice Parfait


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