Dymeclin

Alternative Names

  • DYM
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OMIM Number

607461

NCBI Gene ID

54808

Uniprot ID

Q7RTS9

Length

419874 bases

No. of Exons

23

No. of isoforms

2

Protein Name

Dymeclin

Molecular Mass

75935Da

Amino Acid Count

669

Genomic Location

chr18:49041474-49461347

Gene Map Locus
18q21.1

Description

DYM  gene encodes Dymeclin, a protein that is part of the golgi apparatus and involved in golgi organisation. Dymeclin regulates secretory pathways associated with golgi apparatus which promotes bone formation during early development. It is also known to be involved in early brain development. Mutations in the DYM  gene cause Dyggve-Melchior-Clausen (DMC) disease and Smith-McCourt Dysplasia 1.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017653.4:c.1125+1G>TMoroccoNC_000018.10:g.49281996C>AUncertain SignificanceDyggve-Melchior-Clausen DiseaseNG_009239.2:g.183738G>A; NM_017653.4:c.1125+1G>T; NP_060123.3:p.?
NM_017653.4:c.1252-1G>ALebanonNC_000018.10:g.49258494C>TPathogenicLikely PathogenicDyggve-Melchior-Clausen DiseaseNG_009239.2:g.207240G>A; NM_017653.4:c.1252-1G>A; NP_060123.3:p.?15681191243190
NM_017653.4:c.1447C>TMoroccoNC_000018.10:g.49257023G>ALikely PathogenicDyggve-Melchior-Clausen DiseaseNG_009239.2:g.208711C>T; NM_017653.4:c.1447C>T; NP_060123.3:p.Gln483Ter
NM_017653.4:c.580C>TTunisiaNC_000018.10:g.49333768G>ALikely PathogenicDyggve-Melchior-Clausen DiseaseNG_009239.2:g.131966C>T; NM_017653.4:c.580C>T; NP_060123.3:p.Arg194Ter752075665
NM_017653.4:c.610C>TMoroccoNC_000018.10:g.49333738G>ALikely PathogenicDyggve-Melchior-Clausen DiseaseNG_009239.2:g.131996C>T; NM_017653.4:c.610C>T; NP_060123.3:p.Arg204Ter752868357
NM_017653.4:c.656T>GMoroccoNC_000018.10:g.49331971A>CLikely PathogenicDyggve-Melchior-Clausen DiseaseNG_009239.2:g.133763T>G; NM_017653.4:c.656T>G; NP_060123.3:p.Leu219Ter
NM_017653.5:c.194-1G>ALebanonNC_000018.10:g.49379759C>TLikely PathogenicDyggve-Melchior-Clausen DiseaseNM_017653.5:c.194-1G>A
NM_017653.6:c.1282C>TSaudi ArabiaNC_000018.10:g.49258463G>ALikely PathogenicPathogenicDyggve-Melchior-Clausen DiseaseNG_009239.2:g.207271C>T; NM_017653.6:c.1282C>T; NP_060123.3:p.Arg428Ter771414481191092
NM_017653.6:c.1365+3_1365+10delEgyptNC_000018.10:g.49258370_49258377delUncertain SignificanceDyggve-Melchior-Clausen DiseaseNG_009239.2:g.207357_207364del; NM_017653.6:c.1365+3_1365+10del
NM_017653.6:c.1860+1G>ASaudi ArabiaNC_000018.10:g.49097401C>TLikely PathogenicPathogenicSmith-Mccort Dysplasia 1NG_009239.2:g.368333G>A; NM_017653.6:c.1860+1G>A786205511191091
NM_017653.6:c.1878delEgypt; MoroccoNC_000018.10:g.49044189delLikely Pathogenic, PathogenicLikely Pathogenic, PathogenicDyggve-Melchior-Clausen DiseaseNG_009239.2:g.421547del; NM_017653.6:c.1878del; NP_060123.3:p.Lys626AsnfsTer9414714881893191
NM_017653.6:c.272C>GEgyptNC_000018.10:g.49379680G>CLikely PathogenicPathogenicDyggve-Melchior-Clausen DiseaseNG_009239.1:g.86030C>G; NM_017653.6:c.272C>G; NP_060123.3:p.Ser91Ter786205513191095
NM_017653.6:c.302G>AEgyptNC_000018.10:g.49378686C>TPathogenicDyggve-Melchior-Clausen DiseaseNG_009239.2:g.87048G>A; NM_017653.6:c.302G>A; NP_060123.3:p.Trp101Ter1468696571
NM_017653.6:c.610C>TEgyptNC_000018.10:g.49333738G>APathogenicDyggve-Melchior-Clausen DiseaseNG_009239.2:g.131996C>T; NM_017653.6:c.610C>T; NP_060123.3:p.Arg204Ter752868357
NM_017653.6:c.946+1G>AEgyptNC_000018.10:g.49286433C>TLikely PathogenicPathogenicDyggve-Melchior-Clausen DiseaseNG_009239.2:g.179301G>A; NM_017653.6:c.946+1G>A786205512191093
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