Gene ALMS1 Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: ALMS1
Disorder: Alstrom syndrome
Allele Frequency: 0.00251256
Carrier Rate: 0.0050125
Max At-Risk Couples rate: 0.0000251
The table below lists all clinically relevant variants identified in the ALMS1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 611 |
73613184 |
ALMS1 |
NM_015120.4:c.188delA |
NP_055935.4:p.Gln63Argfs*6 |
1 |
0.000419% |
| 612 |
73650038 |
ALMS1 |
NM_015120.4:c.700C>T |
NP_055935.4:p.Gln234Ter |
1 |
0.000419% |
| 613 |
73675976 |
ALMS1 |
NM_015120.4:c.2321_2418del |
NP_055935.4:p.Pro774Leufs*2 |
1 |
0.000419% |
| 614 |
73676949 |
ALMS1 |
NM_015120.4:c.3292C>T |
NP_055935.4:p.Gln1098Ter |
1 |
0.000419% |
| 615 |
73786172 |
ALMS1 |
NM_015120.4:c.10284dupT |
NP_055935.4:p.Lys3429Ter |
1 |
0.000419% |
| 616 |
73800108 |
ALMS1 |
NM_015120.4:c.11101C>T |
NP_055935.4:p.Arg3701Ter |
1 |
0.000419% |
