Variant ID	Exon
74	Intron 32

RNA effect	Control frequency	Controls origin	NetGene2	BDGP
splicing change	0/>115	ethnically matched

This substitution is located in the acceptor splice site of intron 32. The consequence of this change is not predictable, but a skip of exon 33 is very likely.

Patient information

Allele 1

Allele 2

Patient ID

Family ID

Gender

Age

Origin

Disease

Segregation

Parental consanguinity

Consanguinity degree

Exon/intron

Nucleotide nomencl.

Protein nomencl.

Detection method

Exon/intron

Nucleotide nomencl.

Protein nomencl.

Detection method

Reference

F358-2 (first cousin of F358-1)

F358

France

SLS

yes

no

c.4195-1 G>A

abn transc

Direct sequencing (Sanger)

c.5649 ins A

L1884fsX1906

Direct sequencing (Sanger)

Tory (2007)