PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Disease: Cutis Laxa, Autosomal Recessive, Type IIB ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918374
rs121918374 		0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2009
dbSNP: rs121918375
rs121918375 		0.925 0.080 17 81934670 missense variant C/A;T snv 1.1E-05
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2009
dbSNP: rs121918376
rs121918376 		0.882 0.080 17 81935111 missense variant G/A;C snv 5.7E-05; 8.1E-06
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2009
dbSNP: rs121918377
rs121918377 		0.925 0.080 17 81935110 missense variant C/G;T snv 1.2E-05
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2009
dbSNP: rs139751598
rs139751598 		0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2009 2009
dbSNP: rs762218403
rs762218403 		1.000 0.080 17 81936755 frameshift variant -/G delins 7.0E-06
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0