Variant #0000658890 (NC_000022.10:g.21340188T>G, NC_000022.10(NM_006767.3):c.320+2T>G (LZTR1))

Chromosome 22
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.21340188T>G
DNA change (hg38) g.20985899T>G
Published as -
ISCN -
DB-ID AIFM3_000008
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2020-07-17 11:10:27 +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.320+2T>G r.spl? p.?
AIFM3 NM_144704.2 +?/. - c.*4868T>G r.(=) p.(=)


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