ClinGen Classification:
Classification
Likely Benign
Condition
nonsyndromic genetic deafness
VCEP
Hearing Loss VCEP
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00380544 (AFR)
Genomes Max Group AF
0.00395248 (AFR)
Exomes Max Group AF
0.00328605 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121137971C>T , CM000673.2:g.121137971C>T | GRCh38 |
| NC_000011.9:g.121008680C>T , CM000673.1:g.121008680C>T | GRCh37 |
| NC_000011.8:g.120513890C>T | NCBI36 |
| NG_011633.1:g.40306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3492C>T (TECTA) MANE Select | ENSP00000376543.1:p.Thr1164= | |
| ENST00000642222.1:c.3492C>T (TECTA) | ENSP00000493855.1:p.Thr1164= | |
| ENST00000645008.1:c.799C>T (TECTA) | ||
| ENST00000264037.2:c.3492C>T (TECTA) | ENSP00000264037.2:p.Thr1164= | |
| ENST00000392793.5:c.3492C>T (TECTA) | ENSP00000376543.1:p.Thr1164= | |
| NM_005422.2:c.3492C>T (TECTA) | NP_005413.2:p.Thr1164= | |
| NM_001378761.1:c.4449C>T (TBCEL-TECTA) | NP_001365690.1:p.Thr1483= | |
| NM_005422.4:c.3492C>T (TECTA) MANE Select | NP_005413.2:p.Thr1164= |