NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)Pathogenic
not provided|Rare genetic deafness|Nonsyndromic genetic hearing loss|Autosomal dominant nonsyndromic hearing loss 12;Autosomal recessive nonsyndromic hearing loss 21
β
β
β
β2020β Residue 1362
NM_005422.4(TECTA):c.327C>T (p.Gly109=)Pathogenic
not specified|not provided|TECTA-related disorder|Autosomal recessive nonsyndromic hearing loss 21
β
β
ββ2026β Residue 109
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys)Pathogenic
Autosomal dominant nonsyndromic hearing loss 12|not provided|Nonsyndromic genetic hearing loss
β
β
ββ2026β Residue 1890
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)Pathogenic
Autosomal dominant nonsyndromic hearing loss 12|not provided|Inborn genetic diseases|Rare genetic deafness|See cases|Monogenic hearing loss
β
β
ββ2025β Residue 1866
NM_005422.4(TECTA):c.2367+2T>CLikely pathogenic
Autosomal recessive nonsyndromic hearing loss 21|not provided
β
β
ββ2025
NM_005422.4(TECTA):c.1131_1134del (p.Ser376_Trp377insTer)Pathogenic
not provided|Monogenic hearing loss
β
β
ββ2025β Residue 376
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter)Pathogenic
Rare genetic deafness|not provided
β
β
ββ2025β Residue 1993
NM_005422.4(TECTA):c.596del (p.Leu199fs)Pathogenic
not provided
β
β
ββ2025β Residue 199
NM_005422.4(TECTA):c.5383+5_5383+8delPathogenic
Bilateral sensorineural hearing impairment|Autosomal dominant nonsyndromic hearing loss 12|not provided
β
β
ββ2025
NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys)Pathogenic
Autosomal dominant nonsyndromic hearing loss 12|not provided
β
β
ββ2025β Residue 2021
NM_005422.4(TECTA):c.3526_3539del (p.Tyr1176fs)Pathogenic
not provided
β
β
ββ2025β Residue 1176
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser)Pathogenic
Autosomal dominant nonsyndromic hearing loss 12|not provided
β
β
ββ2025β Residue 1057
NM_005422.4(TECTA):c.6162+1G>APathogenic
not provided
β
β
ββ2025
NM_005422.4(TECTA):c.805C>T (p.Arg269Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 21|Autosomal dominant nonsyndromic hearing loss 12;Autosomal recessive nonsyndromic hearing loss 21
β
β
ββ2025β Residue 269
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly)Pathogenic
Autosomal dominant nonsyndromic hearing loss 12|not provided
β
β
ββ2024β Residue 2006
NM_005422.4(TECTA):c.2139C>A (p.Cys713Ter)Pathogenic
Rare genetic deafness|not provided|Inborn genetic diseases
β
β
ββ2024β Residue 713
NM_005422.4(TECTA):c.4690-1G>APathogenic
not provided|Autosomal dominant nonsyndromic hearing loss 12
β
β
ββ2024
NM_005422.4(TECTA):c.2342_2345dup (p.Ile783fs)Pathogenic
not provided
β
β
ββ2024β Residue 783
NM_005422.4(TECTA):c.3520C>T (p.Arg1174Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 21
β
β
ββ2024β Residue 1174
NM_005422.4(TECTA):c.5826C>A (p.Tyr1942Ter)Pathogenic
not provided
β
β
ββ2024β Residue 1942