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
0.00286461 (AFR)
Genomes Max Group AF
0.00288911 (AFR)
Exomes Max Group AF
0.00253958 (AFR)
Revel Score:
ENST00000392793 (MANE Select)
0.350
ENST00000264037
0.350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121146015G>A , CM000673.2:g.121146015G>A | GRCh38 |
| NC_000011.9:g.121016724G>A , CM000673.1:g.121016724G>A | GRCh37 |
| NC_000011.8:g.120521934G>A | NCBI36 |
| NG_011633.1:g.48350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.4004G>A (TECTA) MANE Select | ENSP00000376543.1:p.Gly1335Glu | |
| ENST00000642222.1:c.4004G>A (TECTA) | ENSP00000493855.1:p.Gly1335Glu | |
| ENST00000645008.1:c.1311G>A (TECTA) | ||
| ENST00000264037.2:c.4004G>A (TECTA) | ENSP00000264037.2:p.Gly1335Glu | |
| ENST00000392793.5:c.4004G>A (TECTA) | ENSP00000376543.1:p.Gly1335Glu | |
| ENST00000478058.1:n.569G>A (TECTA) | ||
| NM_005422.2:c.4004G>A (TECTA) | NP_005413.2:p.Gly1335Glu | |
| NM_001378761.1:c.4961G>A (TBCEL-TECTA) | NP_001365690.1:p.Gly1654Glu | |
| NM_005422.4:c.4004G>A (TECTA) MANE Select | NP_005413.2:p.Gly1335Glu |