Variant #0000736869 (NC_000004.11:g.111539828_111539830del, NM_153426.2:c.408_410del (PITX2))

Individual ID 00336009
Chromosome 4
Allele Parent #1
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.111539828_111539830del
DNA change (hg38) g.110618672_110618674del
Published as -
ISCN -
DB-ID PITX2_000056 See all 2 reported entries
Variant remarks no genotypes reported
Reference PubMed: Sergouniotis 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/181 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-03-10 17:05:56 +01:00 (CET)
Date last edited 2021-03-10 18:12:52 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PITX2 NM_000325.5 +?/. - c.429_431del r.(?) p.(Arg144del)
PITX2 NM_153426.2 +?/. - c.408_410del r.(?) p.(Arg137del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000337239 DNA SEQ-NG - gene panel PITX2 1 LOVD


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