SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.274C>T (p.Gln92*) exon 3
rs number / neighbourhood
rs781216969
AGATGCTGGC[C/T]AGAGCAAGTG
Genomic Coordinates
GRCh37/hg19: chr14:70420145
GRCh38/hg38: chr14:69953428
Frequency
ExAC: T=8.24e-06
1000GP: not reported
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21750680.
#1 PMID: 21750680.
| Clinical Sign | HPO ID |
| Bilateral anophthalmia | HP:0000528 |
| Upper limbs, contractures of fingers | HP:0100490 |
| Lower Limb, postaxial oligodactyly | HP:0006210 |
| Lower Limb, 2-3 toe cutaneous syndactyly | HP:0005709 |
| Bowed tibia | HP:0002982 |
| Talipes equinovarus | HP:0001762 |
| Horseshoe kidney | HP:0000085 |
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Affected individual – variant in a homozygous state |
 |
Affected individual – genotype unknown |
 |
Not affected individual – variant in a heterozygous state (carrrier) |
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Not affected individual – genotype unknown |
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Not affected individual – the variant is not present |
Additional notes
The variant has been detected in Rainger and found in a homozygous state in the patient (reported as c.275C>T).
