Variant #0000868797 (NC_000020.10:g.3888753T>C, NM_153638.2:c.809T>C (PANK2))

Individual ID 00410351
Chromosome 20
Allele Both (homozygous)
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.3888753T>C
DNA change (hg38) g.3908106T>C
Published as PANK2 c.809T>C, p.Leu270Pro
ISCN -
DB-ID PANK2_000074
Variant remarks homozygous
Reference PubMed: Sakpichaisakul 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-24 14:37:58 +02:00 (CEST)
Date last edited 2022-05-24 14:40:30 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PANK2 NM_153638.2 +?/. 2 c.809T>C r.(?) p.(Leu270Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000411615 DNA SEQ blood - PANK2 1 LOVD


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