The DYM gene homepage

General information
Gene symbol	DYM
Gene name	dymeclin
Chromosome	18
Chromosomal band	q21.1
Imprinted	Unknown
Genomic reference	NC_000018.9
Transcript reference	NM_001353214.3, NM_017653.3
Associated with diseases	DMC, ID, SMC1
Citation reference(s)	-
Curators (1)	Global Variome, with Curator vacancy
Total number of public variants reported	66
Unique public DNA variants reported	47
Individuals with public variants	55
Hidden variants	5
Download all this gene's data	Download all data
Notes	Change to MANE transcript NM_001353214.3 Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created	May 03, 2013
Date last updated	April 19, 2024
Version	DYM:240419

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
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	https://www.LOVD.nl/DYM
HGNC	21317
Entrez Gene	54808
PubMed articles	DYM
OMIM - Gene	607461
OMIM - Diseases	DMC (Dyggve-Melchior-Clausen disease) SMC1 (dysplasia, Smith-McCort, type 1)
HGMD	DYM
GeneCards	DYM
GeneTests	DYM
Orphanet	DYM

Active transcripts

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Operator	Column type	Example	Matches
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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
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>=	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
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
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Example	Matches
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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00006788	18	dymeclin	NM_017653.3	NP_060123.3	49
00025757	18	transcript variant 6	NM_001353214.3	NP_001340143.1	26

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Global Variome shared LOVD

DYM (dymeclin)