Variant #0000039716 (NC_000003.11:g.148888270G>A, NC_000003.11(NM_032383.3):c.2888-1612G>A (HPS3))
Individual ID |
00019485 |
Chromosome |
3 |
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.148888270G>A |
DNA change (hg38) |
g.149170483G>A |
Published as |
3027ins89 |
ISCN |
- |
DB-ID |
HPS3_000007 |
Variant remarks |
unknown variant 2nd chromosome |
Reference |
PubMed: Huizing 2001, OMIM:var0007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
William (Bill) Oetting |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2011-10-18 19:28:56 +02:00 (CEST) |
Date last edited |
2016-12-06 21:32:20 +01:00 (CET) |

Variant on transcripts
Screenings
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