Variant #0000602983 (NC_000004.11:g.111539779G>T, NM_153426.2:c.456C>A (PITX2))

Individual ID 00269114
Chromosome 4
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.111539779G>T
DNA change (hg38) g.110618623G>T
Published as -
ISCN -
DB-ID PITX2_000049
Variant remarks ACMG: PVS1,PM2
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 2019-11-06 14:42:09 +01:00 (CET)
Date last edited 2020-03-28 07:10:23 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PITX2 NM_000325.5 +?/. - c.477C>A r.(?) p.(Cys159*)
PITX2 NM_153426.2 +?/. - c.456C>A r.(?) p.(Cys152*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000270245 DNA SEQ-NG-S - - - 1 Andreas Laner


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.