KAL1 gene homepage

General information
Gene symbol KAL1
Gene name Kallmann syndrome 1 sequence
Chromosome X
Chromosomal band p22.32
Imprinted Unknown
Genomic reference NG_007088.1
Transcript reference NM_000216.2
Exon/intron information NM_000216.2 exon/intron table
Associated with diseases HH-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 44
Unique public DNA variants reported 30
Individuals with public variants 204
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant dataase 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 KAL1:180730

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_000216.2.
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/KAL1
External URL Orphanet
HGNC 6211
Entrez Gene 3730
PubMed articles KAL1
OMIM - Gene 300836
OMIM - Diseases HH-1 (KAL-1)
GeneCards KAL1
GeneTests KAL1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000856 X Kallmann syndrome 1 sequence NM_000216.2 NP_000207.2 44

Copyright & disclaimer
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