PTHLH gene homepage

General information
Gene symbol PTHLH
Gene name parathyroid hormone-like hormone
Chromosome 12
Chromosomal band p12.1-p11.2
Imprinted Unknown
Genomic reference NG_023197.1
Transcript reference NM_198965.1
Exon/intron information NM_198965.1 exon/intron table
Associated with diseases BD-E2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Guiomar Perez de Nanclares, Francesca Marta Elli and Giovanna Mantovani
Total number of public variants reported 16
Unique public DNA variants reported 13
Individuals with public variants 52
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated November 28, 2018
Version PTHLH:181128

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_198965.1.
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
External URL Orphanet
HGNC 9607
Entrez Gene 5744
PubMed articles PTHLH
OMIM - Gene 168470
OMIM - Diseases BD-E2 (brachydactyly type E2 (BD-E2))
GeneCards PTHLH
GeneTests PTHLH

Active transcripts




NCBI ID     

NCBI Protein ID     

00017118 12 transcript variant 1 NM_198965.1 NP_945316.1 16

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.