SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.832C>T (p.Arg278Cys) exon 8
rs number / neighbourhood
rs776638586
GGACACAGGG[C/T]GCCCGCTGCC
Genomic Coordinates
GRCh37/hg19: chr14:70477638
GRCh38/hg38: chr14:70010921
Frequency
ExAC: T=1.658e-05
1000GP: not reported
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 21750680, PMID: 6544388.
#1 PMID: 21750680, PMID: 6544388.
| Clinical Sign | HPO ID |
| Bilateral anophthalmia | HP:0000528 |
| Upper limbs, clinodactyly of the 5th finger | HP:0004209 |
| Lower Limb, cutaneous syndactyly 4–5 toe | HP:0004692, HP:0010621 |
| High arched palate | HP:0002705 |
| Severe mental retardation | HP:0010864 |
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Affected individual – variant in a homozygous state |
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Affected individual – genotype unknown |
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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.833C>T in the paper). The patient was firstly reviewed by Pallotta et Dallapiccola.
