Table 1

OMIM and Accession numbers

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


OMIM = 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

Bennett et al. BMC Genetics 2009 10:66   doi:10.1186/1471-2156-10-66

Open Data