Variant #0000175029 (NC_000007.13:g.65548162G>A, ASL(NM_000048.3):c.446+1G>A)
Individual ID |
00108497 |
Chromosome |
7 |
Allele |
Parent #2 |
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.65548162G>A |
DNA change (hg38) |
g.66083175G>A |
Published as |
IVS5+1G>A |
ISCN |
- |
DB-ID |
ASL_000018 See all 19 reported entries |
Variant remarks |
- |
Reference |
PubMed: Linnenbank 2002, OMIM:var0003 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
5.0E-5 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2009-04-04 21:25:35 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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