ClinGen Classification:
Classification
Benign
Condition
nonsyndromic genetic deafness
VCEP
Hearing Loss VCEP
ClinVar Variation:
COSMIC:
COSM3752181
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68011364 (AFR)
Genomes Max Group AF
0.67070598 (AFR)
Exomes Max Group AF
0.68717802 (AFR)
Revel Score:
ENST00000392793 (MANE Select)
0.161
ENST00000264037
0.161
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121118626A>G , CM000673.2:g.121118626A>G | GRCh38 |
| NC_000011.9:g.120989335A>G , CM000673.1:g.120989335A>G | GRCh37 |
| NC_000011.8:g.120494545A>G | NCBI36 |
| NG_011633.1:g.20961A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.1111A>G (TECTA) MANE Select | ENSP00000376543.1:p.Arg371Gly | |
| ENST00000642222.1:c.1111A>G (TECTA) | ENSP00000493855.1:p.Arg371Gly | |
| ENST00000264037.2:c.1111A>G (TECTA) | ENSP00000264037.2:p.Arg371Gly | |
| ENST00000392793.5:c.1111A>G (TECTA) | ENSP00000376543.1:p.Arg371Gly | |
| NM_005422.2:c.1111A>G (TECTA) | NP_005413.2:p.Arg371Gly | |
| NM_001378761.1:c.2068A>G (TBCEL-TECTA) | NP_001365690.1:p.Arg690Gly | |
| NM_005422.4:c.1111A>G (TECTA) MANE Select | NP_005413.2:p.Arg371Gly |