Variant #0000730261 (NC_000010.10:g.56138666_56138671delinsTGTTGTCC, NM_033056.3:c.189_194delinsGGACAACA (PCDH15))
Individual ID |
00331616 |
Chromosome |
10 |
Allele |
Parent #2 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.56138666_56138671delinsTGTTGTCC |
DNA change (hg38) |
g.54378906_54378911delinsTGTTGTCC |
Published as |
c.189_194delAGGGACinsGGACAACA |
ISCN |
- |
DB-ID |
PCDH15_000408 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Sun 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-02-12 13:51:13 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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