Variant: rs1554794342 

    present in Gene: ERCC6
    present in Chromosome: 10
    Position on Chromosome: 49530769
    Alleles of this Variant: CTGCTGG/-

rs1554794342 in ERCC6 gene and Dysmorphic features PMID 26204423 2016 The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

PMID 26749132 2016 Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

PMID 10767341 2000 Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.

PMID 1372469 1992 Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

PMID 23428416 2013 Cockayne syndrome: the expanding clinical and mutational spectrum.

PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 18628313 2008 Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

rs1554794342 in ERCC6 gene and Movement Disorders PMID 26204423 2016 The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

PMID 23428416 2013 Cockayne syndrome: the expanding clinical and mutational spectrum.

PMID 26749132 2016 Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.

PMID 18628313 2008 Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 1372469 1992 Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

PMID 10767341 2000 Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.