Variant #0000868825 (NC_000020.10:g.3870362del, NM_153638.2:c.615del (PANK2))

Individual ID 00410374
Chromosome 20
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.3870362del
DNA change (hg38) g.3889715del
Published as PANK2 285delG; 370A>G
ISCN -
DB-ID PANK2_000072
Variant remarks different transcript: NM_001386393.1:c.285del = NM_153638.2:c.615del; heterozygous
Reference PubMed: Egan 2005
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-25 10:27:39 +02:00 (CEST)
Date last edited 2022-05-25 10:28:10 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PANK2 NM_153638.2 +?/. - c.615del r.(?) p.(Lys207SerfsTer46)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000411638 DNA SEQ blood - PANK2 2 LOVD


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