Variant: rs200691042 

    present in Gene: FAM161A
    present in Chromosome: 2
    Position on Chromosome: 61839695
    Alleles of this Variant: T/A

rs200691042 in FAM161A gene and RETINITIS PIGMENTOSA 28 PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26574802 2015 A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

PMID 20705278 2010 Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

rs200691042 in FAM161A gene and Retinal Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs200691042 in FAM161A gene and Retinitis Pigmentosa PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 20705278 2010 Another homozygous FAM161A stop mutation (p.Arg437X) was detected in three subjects from a cohort of 118 apparently unrelated German RP patients.

PMID 26113502 2015 Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.

PMID 26574802 2015 Subsequent ARMS analysis and Sanger sequencing in Dutch and Belgian arRP patients resulted in the identification of seven additional individuals carrying the p.(Arg437*) mutation, either homozygously or compound heterozygously with another mutation.

PMID 25999674 2015 The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.