The KIF7 gene homepage

General information
Gene symbol KIF7
Gene name kinesin family member 7
Chromosome 15
Chromosomal band q26.1
Imprinted Unknown
Genomic reference NG_030338.1
Transcript reference NM_198525.2
Exon/intron information NM_198525.2 exon/intron table
Associated with diseases ACLS, AGBK, ANPH, HLS2, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Tania Attie-Bitach
Total number of public variants reported 315
Unique public DNA variants reported 182
Individuals with public variants 73
Hidden variants 29
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created July 20, 2011
Date last updated February 26, 2024
Version KIF7:240226

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_198525.2.
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/KIF7
HGNC 30497
Entrez Gene 374654
PubMed articles KIF7
OMIM - Gene 611254
OMIM - Diseases ACLS (JBTS12)
AGBK (?Al-Gazali-Bakalinova syndrome)
ANPH (anencephaly (ANPH))
HLS2 (hydrolethalus syndrome, type 2 (HLS-2))
HGMD KIF7
GeneCards KIF7
GeneTests KIF7
Orphanet KIF7


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010587 15 kinesin family member 7 NM_198525.2 NP_940927.2 315


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