Variant #0000146361 (NC_000016.9:g.16315540_16315548del, NM_001171.5:c.179_187del (ABCC6))
Individual ID |
00088545 |
Chromosome |
16 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.16315540_16315548del |
DNA change (hg38) |
g.16221683_16221691del |
Published as |
179del9 |
ISCN |
- |
DB-ID |
ABCC6_000220 |
Variant remarks |
- |
Reference |
PubMed: Pulkkinen 2001 |
ClinVar ID |
- |
dbSNP ID |
rs74315110 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Tim Hefferon |
Database submission license |
No license selected |
Created by |
Tim Hefferon |
Date created |
2009-07-02 00:00:00 +02:00 (CEST) |
Date last edited |
2020-07-09 13:57:36 +02:00 (CEST) |

Variant on transcripts
Screenings
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