Variant #0000058937 (NC_000023.10:g.99663235C>T, NM_001184880.1:c.361G>A (PCDH19))
Individual ID |
00032701 |
Chromosome |
X |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.99663235C>T |
DNA change (hg38) |
g.100408237C>T |
Published as |
- |
ISCN |
- |
DB-ID |
PCDH19_000019 See all 3 reported entries |
Variant remarks |
missense change; no variants SCN1A gene; not in 180 control individuals |
Reference |
PubMed: Depienne 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Christel Depienne |
Database submission license |
No license selected |
Created by |
Christel Depienne |
Date created |
2011-12-12 23:19:57 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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