TRNT1 (NM_182916.3) sequence variants
(CCA1, RPEM, SIFD, MtCCA, CGI-47)

General web sites
LRG	LRG_1314
DNA	NC_000003.12 GRCh38.p13	ENSG00000072756 GRCh38.p13
	NC_000003.11 GRCh37.p13	ENSG00000072756 GRCh37.p13
	NG_041800.2
mRNA	NM_182916.3	ENST00000251607.11
CCDS	CCDS2561
Protein	NP_886552.2	ENSP00000251607.6
NCBI Gene	51095
OMIM Gene	612907
OMIM Disease	616084
Nomenclature	HGNC

PubMed of the initial paper: Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Chakraborty PK & al
Variants review: Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review Maccora I & al
Other links: MAP VIEW ORPHANET: Orphan disease database