Variant #0000663697 (NC_000022.10:g.21341824del, NM_006767.3:c.352del (LZTR1))

Individual ID 00299689
Chromosome 22
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.21341824del
DNA change (hg38) g.20987535del
Published as -
ISCN -
DB-ID LZTR1_000149
Variant remarks ACMG grading: PVS1,PM2
schwannomatosis at age 66y
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2020-04-20 10:25:01 +02:00 (CEST)
Date last edited 2020-07-17 11:10:35 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LZTR1 NM_006767.3 +?/. - c.352del r.(?) p.(Arg118Valfs*29)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000300799 DNA SEQ-NG-S - - - 1 Andreas Laner


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