Variant: rs121918374 

    present in Gene: PYCR1
    present in Chromosome: 17
    Position on Chromosome: 81934326
    Alleles of this Variant: C/G;T

rs121918374 in PYCR1 gene and Cutis Laxa PMID 26516448 2015 Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report.

PMID 19576563 2009 Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

PMID 19648921 2009 Mutations in PYCR1 cause cutis laxa with progeroid features.

PMID 24035636 2013 Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

rs121918374 in PYCR1 gene and Cutis Laxa, Autosomal Recessive, Type IIB PMID 19648921 2009 Mutations in PYCR1 cause cutis laxa with progeroid features.

PMID 19576563 2009 Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

rs121918374 in PYCR1 gene and Dysmorphic features PMID 22052856 2011 Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

PMID 24035636 2013 Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

PMID 19576563 2009 Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

PMID 19648921 2009 Mutations in PYCR1 cause cutis laxa with progeroid features.

rs121918374 in PYCR1 gene and Multiple congenital anomalies PMID 19648921 2009 Mutations in PYCR1 cause cutis laxa with progeroid features.

PMID 24035636 2013 Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

PMID 22052856 2011 Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

PMID 19576563 2009 Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.