PKD1

Polycystic kidney disease 1

Gene symbol : PKD1

Location : 16p13

Number of mutations for this gene = 33

Number of mutations on this page = 2

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 Nucleotide Codon Insertion Disease state Reference
CI962179 10947 3579 T Polycystic kidney disease 1 1
CI971975 11549 3780 ACCAGCGATT Polycystic kidney disease 1 2

References

1 - Peral (1996) Am J Hum Genet 58, 86

2 - Turco (1997) Hum Mutat 10, 164

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	Nucleotide	Codon	Insertion	Disease state	Reference
CI962179	10947	3579	T	Polycystic kidney disease 1	1
CI971975	11549	3780	ACCAGCGATT	Polycystic kidney disease 1	2