All individuals with variants in gene STRC

Legend

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.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

45 entries on 1 page. Showing entries 1 - 45.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00059140	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	2	1	Manou Sommen
00059166	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	2	1	Manou Sommen
00059188	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00060269	-	PubMed: Francey 2012, Journal: Francey 2012	-	-	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNB16	Congenital, mild-moderate NSHL	2	3	Zippi Brownstein
00060271	-	-	-	-	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNB16	Congenital, mild-moderate NSHL	2	1	Zippi Brownstein
00060273	-	Karen Avraham Laboratory	-	-	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNB16	Congenital, moderate NSHL	1	2	Zippi Brownstein
00060274	-	Karen Avraham Laboratory	-	-	no	Israel	Jewish-Ashkenazi	-	-	-	-	DFNB16	Congenital, mild-moderate NSHL	2	1	Zippi Brownstein
00060279	-	-	182 deafness controls	-	-	Israel	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00080020	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Mieke Wesdorp
00080030	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Mieke Wesdorp
00080032	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Mieke Wesdorp
00080048	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Mieke Wesdorp
00117282	S1511	PubMed: Baux 2017, Journal: Baux 2017	Proband	M	no	France	-	-	-	-	-	deafness	-	2	1	David Baux
00117283	S1516	PubMed: Baux 2017, Journal: Baux 2017	Proband	M	no	France	-	-	-	-	-	deafness	-	2	1	David Baux
00117284	S1537	PubMed: Baux 2017, Journal: Baux 2017	Proband	F	no	France	-	-	-	-	-	deafness	-	2	1	David Baux
00117285	S1637	PubMed: Baux 2017, Journal: Baux 2017	Proband	F	?	France	-	-	-	-	-	deafness	-	1	1	David Baux
00117286	S1696	PubMed: Baux 2017, Journal: Baux 2017	Proband	F	no	France	-	-	-	-	-	deafness	-	2	1	David Baux
00117287	S1733	PubMed: Baux 2017, Journal: Baux 2017	Proband	M	?	France	-	-	-	-	-	deafness	-	1	1	David Baux
00117288	S1783	PubMed: Baux 2017, Journal: Baux 2017	Proband	F	?	France	-	-	-	-	-	deafness	-	1	1	David Baux
00117289	S1800	PubMed: Baux 2017, Journal: Baux 2017	Proband	F	no	France	-	-	-	-	-	deafness	-	2	1	David Baux
00117290	S1812	PubMed: Baux 2017, Journal: Baux 2017	Proband	M	?	France	-	-	-	-	-	deafness	-	1	1	David Baux
00117291	S1541	PubMed: Baux 2017, Journal: Baux 2017	Proband	M	?	France	-	-	-	-	-	deafness	-	1	1	David Baux
00117292	S1802	PubMed: Baux 2017, Journal: Baux 2017	Proband	F	no	France	-	-	-	-	-	deafness	-	1	1	David Baux
00173910	Family STRC: Ind. III:6	-	-	M	no	Norway	-	-	-	-	-	DFNB16	-	2	3	Joakim Klar
00228149	FamPatII3	PubMed: Mahfood 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	United Arab Emirates	-	-	-	-	-	DFNB	congenital bilateral profound sensorineural hearing loss	1	1	Johan den Dunnen
00275926	SB135-228	PubMed: Kim 2020, Journal: Kim 2020	-	-	-	Korea	-	-	-	-	-	deafness	-	2	1	Doo-Yi Oh
00275927	SB286-570	PubMed: Kim 2020, Journal: Kim 2020	-	-	-	Korea	-	-	-	-	-	deafness	-	2	1	Doo-Yi Oh
00275928	SB287-572	PubMed: Kim 2020, Journal: Kim 2020	-	-	-	Korea	-	-	-	-	-	deafness	-	2	1	Doo-Yi Oh
00275929	SB248-480	PubMed: Kim 2020, Journal: Kim 2020	-	-	-	Korea	-	-	-	-	-	deafness	-	2	1	Doo-Yi Oh
00275930	SH229-533	PubMed: Kim 2020, Journal: Kim 2020	-	-	-	Korea	-	-	-	-	-	deafness	-	2	1	Doo-Yi Oh
00275931	SB433-840	PubMed: Kim 2020, Journal: Kim 2020	-	-	-	Korea	-	-	-	-	-	deafness	-	2	1	Doo-Yi Oh
00275932	SB118-210	PubMed: Kim 2020, Journal: Kim 2020	-	-	-	Korea	-	-	-	-	-	deafness	-	2	1	Doo-Yi Oh
00291213	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00291214	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00291215	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00295947	SB118-210	-	-	M	?	Korea, South (Republic)	Asian	05y	-	-	-	deafness	Mild degree hearing loss	1	1	Seungmin Lee
00295953	SB88-158	-	-	M	?	Korea, South (Republic)	Asian	00y06m	-	-	-	deafness	Mild hearing loss	2	1	Seungmin Lee
00314777	KF-TP	Journal: Kannan-Sundhari 2020	4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives	F	yes	Iran	-	-	-	-	-	HL	see paper; hearing loss , ...	1	2	Johan den Dunnen
00327074	SB286-570	PubMed: Kim 2022, Journal: Kim 2022	-	-	-	Korea, South (Republic)	-	-	-	-	-	DFNA1	-	1	1	So Young Kim
00327075	SB248-490	PubMed: Kim 2022, Journal: Kim 2022	-	-	-	Korea, South (Republic)	-	-	-	-	-	DFNA1	-	1	1	So Young Kim
00327076	SB287-572	PubMed: Kim 2022, Journal: Kim 2022	-	-	-	Korea, South (Republic)	-	-	-	-	-	DFNA1	-	1	1	So Young Kim
00327077	SH110-228	PubMed: Kim 2022, Journal: Kim 2022	-	-	-	Korea, South (Republic)	-	-	-	-	-	DFNA1	-	1	1	So Young Kim
00384626	Family 4 patient 1	PubMed: Ehrenberg 2019	-	F	yes	Israel	-	-	-	-	-	?	Retinitis pigmentosa (XL) and diabetes insipidus (XL) and hearing loss (AR)	1	1	LOVD
00397400	SB38-75	PubMed: Choi 2013	family, 2 affected	-	-	Korea	-	-	-	-	-	HL	-	1	2	Johan den Dunnen
00471226	Pat6	PubMed: Brunet 2021	patient	F	no	England;Croatia (Hrvatska)	white	-	-	-	-	NDD	see paper; ..., no short stature; no macrocephaly; developmental delay; no speech, 4y-signing about 100 words; motor delay; Smile at 6 months, eye contact at 3 months; 8-9m-sit; 23m-walk; self-abusive, aggressive towards other children; no seizures; EEG normal; no nystagmus; no hypotonia; no spasticity; no rigor; no ataxia; brady-/hypokinesia, poor facial expression; dystonia, raises right arm and abducts shoulder; mild pulmonary valve stenosis; constipation; normal vision; moderate-severe bilateral sensorineural deafness, attends school the deaf; pectus carinatum, clinodactyly, pes planus; dysmorphic facial features; broad nasal bridge; small ear, overfolded helices, posteriorly roated ears, anteverted lobes; bilateral epicanthal folds, deep infraorbital creases, poor facial expression, deep voice, pectus carinatum, hypertelorism, right lateral incisor fused with first bicuspid, clinodactyly, high palate, small mouth	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

STRC (stereocilin)