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Mutation Direct

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Gene: AP3B1 & Disease: HPS1, 45 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1878314	AP3B1	c.1789dup	p.Ile597fs (p.I597fs)	NM_003664.5 M	Dup	LP	2 +	3
210188	AP3B1	c.2613C>T	p.His871= (p.H871=)	NM_003664.5 M	SNV	LB	4 +	3
210189	AP3B1	c.2661C>A	p.Phe887Leu (p.F887L)	NM_003664.5 M	SNV	LB	4 +	3
1878314	AP3B1	c.1642dup	p.Ile548fs (p.I548fs)	NM_001271769.2	Dup	LP	2 +	3
1878314	AP3B1	c.1783dup	p.Ile597Asnfs (p.I597Asnfs)	NM_001410752.1	Dup	LP	2 +	3
210188	AP3B1	c.2466C>T	p.His822= (p.H822=)	NM_001271769.2	SNV	LB	4 +	3
210189	AP3B1	c.2514C>A	p.Phe838Leu (p.F838L)	NM_001271769.2	SNV	LB	4 +	3
178705	AP3B1	c.1038T>C	p.Asn346= (p.N346=)	NM_003664.5 M	SNV	B	3 +	1
162752	AP3B1	c.2016T>C	p.Ala672= (p.A672=)	NM_003664.5 M	SNV	B	3 +	1
162753	AP3B1	c.1754T>A	p.Val585Glu (p.V585E)	NM_003664.5 M	SNV	B	3 +	1
354217	AP3B1	c.*107T>A	--	NM_003664.5 M	SNV	B	2 +	1
354253	AP3B1	c.280-6dup	--	NM_003664.5 M	Dup	B	3 +	1
178705	AP3B1	c.891T>C	p.Asn297= (p.N297=)	NM_001271769.2	SNV	B	3 +	1
162752	AP3B1	c.1869T>C	p.Ala623= (p.A623=)	NM_001271769.2	SNV	B	3 +	1
162753	AP3B1	c.1607T>A	p.Val536Glu (p.V536E)	NM_001271769.2	SNV	B	3 +	1
354217	AP3B1	c.*107T>A	--	NM_001271769.2	SNV	B	2 +	1
354253	AP3B1	c.133-6dup	--	NM_001271769.2	Dup	B	3 +	1
178702	AP3B1	c.1969-10G>A	--	NM_003664.5 M	SNV	LB	3 +	0
178703	AP3B1	c.1683C>T	p.Leu561= (p.L561=)	NM_003664.5 M	SNV	LB	4 +	0
178704	AP3B1	c.1317T>G	p.Thr439= (p.T439=)	NM_003664.5 M	SNV	LB	4 +	0

45 Results, 20 per Page

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