Hereditary Hearing Loss Database
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
13 entries on 1 page. Showing entries 1 - 13.
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Symbol
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
CDH23
cadherin related 23
10
q22.1
1
1
1
2018-03-16
-
GJB2
gap junction protein beta 2
13
q12.11
1
26
25
2018-04-03
-
GJB3
gap junction protein beta 3
1
p34.3
1
1
1
2018-04-03
-
GJB6
gap junction protein beta 6
13
q12.11
1
1
1
2018-03-16
-
MT-RNR1
mitochondrially encoded 12S RNA
M
-
1
5
5
2018-03-16
-
MT-TA
mitochondrially encoded tRNA alanine
M
-
0
0
0
N/A
-
MT-TK
mitochondrially encoded tRNA lysine
M
-
1
1
1
2018-03-16
-
MT-TS1
mitochondrially encoded tRNA serine 1 (UCN)
M
-
0
0
0
N/A
-
MT-TS2
mitochondrially encoded tRNA serine 2 (AGU/C)
M
-
1
1
1
2018-03-16
-
MT-TT
mitochondrially encoded tRNA threonine
M
-
1
0
0
N/A
-
MYO15A
myosin XVA
17
p11.2
1
1
1
2018-03-16
-
OTOF
otoferlin
2
p23.3
1
10
10
2018-04-03
-
SLC26A4
solute carrier family 26 member 4
7
q22.3
1
13
13
2018-04-03
-
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