Polycystic kidney disease 1 Gene symbol : PKD1 Location : 16p13

Nucleotide substitutions -	Missense/nonsense	Splicing
Small lesions -	Small deletions	Small insertions
HGMD options -	HGMD search	HGMD help	HGMD home	Mutation map	cDNA sequence
External links -	OMIM entry	GDB entry	PKD database

Accession Number	IVS	Donor/ Acceptor	Relative location	Substitution	Disease state	Reference
CS971348	39	ds	+1	G-C	Polycystic kidney disease 1	1
CS971349	44	ds	+1	G-C	Polycystic kidney disease 1	1

Reference

1 - Peral (1997) Am J Hum Genet 60, 1399