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Table 1 OMIM and Accession numbers

From: Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

 

Homo Sapiens

Gene

OMIM#

Genomic RefSeq

NM_#

v.*

Entrez

Gene ID

UniProt ID

DMD

300377

NC_000023

004006

.2

1756

P11532

CAV3

601253

NG_008797

033337

.1

859

P56539

CAPN3

114240

NG_008660

000070

.2

825

P20807

TRIM32

602290

NG_011619

012210

.3

22954

Q13049

FKRP

606596

NG_008898

024301

.4

79147

Q9H9S5

LMNA

150330

NG_008692

170707

.2

4000

P02545

SGCA

600119

NG_008889

000023

.2

6442

Q16586

SGCB

600900

NG_008891

000232

.4

6443

Q16585

SGCG

608896

NG_008758

000231

.2

6445

Q13326

SGCD

601411

NG_008693

000337

.5

6444

Q92629

  1. O MIM = Online Mendelian Inheritance in Man, NM_# are the RefSeq numbers for the most common muscle isoform mRNA.* version is the latest NM_# version at time of publication and also the version used for CDS nucleotide numbering in Table 7 HGVS variation nomenclature
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BMC Genomic Data

ISSN: 2730-6844

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