LPIN2 (NM_014646.2) sequence variants

General web sites
LRG	LRG_174
DNA	NC_000018.10 GRCh38.p13	ENSG00000101577 GRCh38.p13
DNA	NC_000018.9GRCh37.p13	ENSG00000101577 GRCh37.p13
	NG_007507.1
mRNA	NM_014646.2	ENST00000261596.8
CCDS	CCDS11829.1
Protein	NP_055461.1	ENSP00000261596.4
NCBI Gene	9663
OMIM Gene	605519
OMIM Disease	609628
Nomenclature	HGNC

PubMed of the initial paper: Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). Ferguson, PJ & al.
Other links : Genatlas MAP VIEW ORPHANET: Orphan disease database