MFMD

Search

Browse the database

By Disease
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

By Gene
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Alport syndrome, autosomal recessive

OMIM: 203780
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

COL4A3 || c.4001G>A

Gene/Locus:	COL4A3
Dna Change:	c.4001G>A
Protein Change:	p.Gly1334Glu
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 45
Transcript:	NM_000091.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Cyprus	NA	NA	7 families/13 families	NA	Voskarides K et al., 2007Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C, . COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.. J. Am. Soc. Nephrol.. 2007; 18(11):3004-16

COL4A3 || c.2611G>T

Gene/Locus:	COL4A3
Dna Change:	c.2611G>T
Protein Change:	p.Gly871Cys
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 32
Transcript:	NM_000091.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Cyprus	NA	NA	3 families/13 families	NA	Voskarides K et al., 2007Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C, . COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.. J. Am. Soc. Nephrol.. 2007; 18(11):3004-16

References

Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C, COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.J. Am. Soc. Nephrol.. 2007; 18(11):3004-16

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Alport syndrome, autosomal recessive

References