Gene BTD 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: BTD
Disorder: Biotinidase deficiency
Allele Frequency: 0.00711893
Carrier Rate: 0.0141365
Max At-Risk Couples rate: 0.000199841
The table below lists all clinically relevant variants identified in the BTD gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 135 |
15676989 |
BTD |
NM_001370658.1:c.44_45delGT |
NP_001357587.1:p.Cys15Leufs*16 |
3 |
0.001256% |
| 136 |
15686731 |
BTD |
NM_001370658.1:c.1308A>C |
NP_001357587.1:p.Gln436His |
3 |
0.001256% |
| 655 |
15676984 |
BTD |
NM_001370658.1:c.38delG |
NP_001357587.1:p.Cys13Serfs*37 |
1 |
0.000419% |
| 656 |
15676985 |
BTD |
NM_001370658.1:c.39delC |
NP_001357587.1:p.Cys13Trpfs*37 |
1 |
0.000419% |
| 657 |
15677019 |
BTD |
NM_001370658.1:c.76delG |
NP_001357587.1:p.Glu26Argfs*24 |
1 |
0.000419% |
| 658 |
15677030 |
BTD |
NM_001370658.1:c.84delC |
NP_001357587.1:p.Ser28Argfs*22 |
1 |
0.000419% |
| 659 |
15677046 |
BTD |
NM_001370658.1:c.100delG |
NP_001357587.1:p.Glu34Argfs*16 |
1 |
0.000419% |
| 660 |
15677086 |
BTD |
NM_001370658.1:c.141delC |
NP_001357587.1:p.Ile48Serfs*2 |
1 |
0.000419% |
| 661 |
15677088 |
BTD |
NM_001370658.1:c.142delA |
NP_001357587.1:p.Ile48Serfs*2 |
1 |
0.000419% |
| 662 |
15677098 |
BTD |
NM_001370658.1:c.152delT |
NP_001357587.1:p.Leu51Argfs*16 |
1 |
0.000419% |
| 663 |
15677122 |
BTD |
NM_001370658.1:c.176delG |
NP_001357587.1:p.Arg59Profs*8 |
1 |
0.000419% |
| 664 |
15677147 |
BTD |
NM_001370658.1:c.202delC |
NP_001357587.1:p.Gln68Argfs*10 |
1 |
0.000419% |
| 665 |
15685968 |
BTD |
NM_001370658.1:c.545A>T |
p.Asn182Ile |
1 |
0.000419% |
