Gene SPTA1 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: SPTA1
Disorder: Spherocytosis
Allele Frequency: 0.00167504
Carrier Rate: 0.00334447
Max At-Risk Couples rate: 0.0000112
The table below lists all clinically relevant variants identified in the SPTA1 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 150 |
158648224 |
SPTA1 |
NM_003126.4:c.779T>C |
p.Leu260Pro |
2 |
0.000838% |
| 313 |
158613314 |
SPTA1 |
NM_003126.4:c.4339-99C>T |
|
1 |
0.000419% |
| 314 |
158651386 |
SPTA1 |
NM_003126.4:c.460_462dupTTG |
NP_003117.2:p.Leu155dup |
1 |
0.000419% |
