Variant #0000438393 (NC_000002.11:g.73677576G>T, NM_001378454.1:c.3922G>T (ALMS1))
Individual ID |
00207481 |
Chromosome |
2 |
Allele |
Parent #2 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73677576G>T |
DNA change (hg38) |
g.73450449G>T |
Published as |
c.3919G>T |
ISCN |
- |
DB-ID |
ALMS1_000446 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marta de Castro-Miró |
Database submission license |
No license selected |
Created by |
Marta de Castro-Miró |
Date created |
2018-11-23 15:31:46 +01:00 (CET) |
Date last edited |
2024-05-18 17:48:30 +02:00 (CEST) |

Variant on transcripts
Screenings
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