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 International |
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) |

Variant on transcripts
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