The MYH9 gene homepage

General information
Gene symbol	MYH9
Gene name	myosin, heavy chain 9, non-muscle
Chromosome	22
Chromosomal band	q13.1
Imprinted	Unknown
Genomic reference	NG_011884.1
Transcript reference	NM_002473.4
Exon/intron information	NM_002473.4 exon/intron table
Associated with diseases	DFNA17, ESS, FTNS, MATINS, MTCPSD, SBS
Citation reference(s)	-
Refseq URL	Genomic reference sequence
Curators (1)	Anna Savoia
Total number of public variants reported	365
Unique public DNA variants reported	213
Individuals with public variants	90
Hidden variants	16
Date created	May 03, 2013
Date last updated	April 19, 2024
Version	MYH9:240419

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
Reading frame checker	The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002473.4.
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL	http://www.LOVD.nl/MYH9
External URL	Hereditary Hearing Loss Homepage
HGNC	7579
Entrez Gene	4627
PubMed articles	MYH9
OMIM - Gene	160775
OMIM - Diseases	DFNA17 (deafness, autosomal dominant, type 17 (DFNA-17)) ESS (Epstein syndrome (ESS)) FTNS (Fechtner syndrome (FTNS)) MATINS (MHA) MTCPSD (macrothrombocytopenia and progressive sensorineural deafness (MTCPSD)) SBS (Sebastian syndrome (SBS))
HGMD	MYH9
GeneCards	MYH9
GeneTests	MYH9
Orphanet	MYH9

Active transcripts

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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'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00014141	22	myosin, heavy chain 9, non-muscle	NM_002473.4	NP_002464.1	365

Copyright & disclaimer
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Global Variome shared LOVD

MYH9 (myosin, heavy chain 9, non-muscle)