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NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) AND Aicardi Goutieres syndrome 3

Significance: Pathogenic/Likely pathogenic
ClinVar: RCV000001322

Variant: NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp)

Type: Variant
Allele: NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) 16299
Gene:
Type: single nucleotide variant
Location: Chr11: 65487856 - assembly GRCh37
Chr11: 65720385 - assembly GRCh38
References: dbSNP: 78635798
OMIM: 610330.0001
UniProtKB: Q8TDP1#VAR_027287

Condition

Disease: Aicardi Goutieres syndrome 3

Citations

    In affected members of 5 consanguineous Pakistani families with Aicardi-Goutieres syndrome-3 (AGS3; 610329), Crow et al. (2006) identified a homozygous 205C-T transition in exon 2 of the RNASH2C gene, resulting in an arg69-to-trp (R69W) substitution. Haplotype analysis suggested a founder effect.
PMID:16845400
    Rice et al. (2007) found this mutation on a common haplotype in 13 families of Pakistani origin.
PMID:17846997
    In 2 Pakistani sisters with variable manifestations of AGS3, Vogt et al. (2013) identified homozygosity for the R69W mutation in the RNASEH2C gene. Her unaffected parents were heterozygous for the mutation.
PMID:23322642