Gene LOXHD1 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: LOXHD1
Disorder: Deafness
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 LOXHD1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 542 |
44104697 |
LOXHD1 |
NM_144612.7:c.4714C>T |
p.Arg1572* |
1 |
0.000419% |
| 543 |
44126968 |
LOXHD1 |
NM_144612.7:c.3401_3404dupAGCT |
NP_653213.6:p.Ser1136Alafs*10 |
1 |
0.000419% |
| 544 |
44190737 |
LOXHD1 |
NM_144612.7:c.759+2delT |
|
1 |
0.000419% |
| 545 |
44190737 |
LOXHD1 |
NM_144612.7:c.759+2T>A |
p.? |
1 |
0.000419% |
| 546 |
44190788 |
LOXHD1 |
NM_144612.7:c.710delA |
NP_653213.6:p.Asn237Metfs*18 |
1 |
0.000419% |
| 547 |
44190815 |
LOXHD1 |
NM_144612.7:c.683delC |
NP_653213.6:p.Pro228Argfs*6 |
1 |
0.000419% |
