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 International |
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) |

Variant on transcripts
Screenings
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