IGSF1 gene homepage

General information
Gene symbol IGSF1
Gene name immunoglobulin superfamily, member 1
Chromosome X
Chromosomal band q25
Imprinted Not imprinted
Genomic reference NG_021190.2
Transcript reference NM_001170961.1
Exon/intron information NM_001170961.1 exon/intron table
Associated with diseases CHTE
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Yu Sun
Total number of public variants reported 111
Unique public DNA variants reported 56
Individuals with public variants 195
Hidden variants 0
Notes Establishment of this LSDB was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated July 30, 2018
Version IGSF1:180730

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001170961.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/IGSF1
External URL Orphanet
HGNC 5948
Entrez Gene 3547
PubMed articles IGSF1
OMIM - Gene 300137
OMIM - Diseases CHTE (Hypothyroidism, central, testicular enlargement (CHTE))
HGMD IGSF1
GeneCards IGSF1
GeneTests IGSF1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000378 X transcript variant 3 NM_001170961.1 NP_001164432.1 111


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