SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
c.857G>A (p.Arg286His) exon 8
rs number / neighbourhood
no rs number
ACCTCCACAC[G/A]gtaagccccc
Genomic Coordinates
GRCh37/hg19: chr14:70477663
GRCh38/hg38: chr14:70010946
Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported
Pathogenic for microphthalmia with limb anomalies
Reference: PMID: 23646827.
#1 PMID: 23646827.
Clinical Sign | HPO ID |
Bilateral anophthalmia | HP:0000528 |
Syndactyly | HP:0001159 |
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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 |
#2 PMID: 23646827.
Clinical Sign | HPO ID |
Unilateral anophthalmia | HP:0000528 |
Syndactyly | HP:0001159 |
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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 Aldahmesh and found in a homozygous state in both patients. In an other branch of the family the authors identified two variants in the ALDH13 gene in patients affected by microphthalmia.