SMOC1 – NM_001034852.2:c.211C>T
SMOC1 OMIM: *608488 14q24.2 – NM_001034852.2 c.211C>T (p.Arg71*) exon 2 rs number / neighbourhood rs532566349 TGAGTACCAG[C/T]GAGCCAAGTG Genomic Coordinates GRCh37/hg19: chr14:70418966 GRCh38/hg38: chr14:69952249 Frequency ExAC: T=8.238e-06 1000GP: T=0.0002 ESP: not reported Pathogenic for microphthalmia with limb anomalies Reference: PMID: 21750680, PMID: 18541965. #1 PMID: 21750680, PMID: 18541965. Clinical Sign HPO ID Unilateral anophthalmia HP:0000528 Lower limbs, postaxial