SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.223C>T (p.Arg75*) exon 2
rs number / neighbourhood
rs370866589
AGCCAAGTGC[C/T]GAGACCCGAC
Genomic Coordinates
GRCh37/hg19: chr14:70418978
GRCh38/hg38: chr14:69952261
Frequency
ExAC: T=3.295e-05
1000GP: not reported
ESP: T=0.000077
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 Limb, bilateral 4-5 metacarpal fusion | HP:0005867 |
| Lower Limb, postaxial oligodactyly | HP:0006210 |
| 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.224C>T). The patient was firstly reviewed by Pallotta et Dallapiccola.
