SMOC1 – NM_001034852.2:c.857G>A

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

 

11-c857a

black Affected individual – variant in a homozygous state
unknow-affected Affected individual – genotype unknown
carrier Not affected individual – variant in a heterozygous state (carrrier)
unknown-healthy Not affected individual – genotype unknown
healthy-novar Not affected individual – the variant is not present

#2  PMID: 23646827.

Clinical Sign HPO ID
Unilateral anophthalmia HP:0000528
Syndactyly HP:0001159

11-c857b

black Affected individual – variant in a homozygous state
unknow-affected Affected individual – genotype unknown
carrier Not affected individual – variant in a heterozygous state (carrrier)
unknown-healthy Not affected individual – genotype unknown
healthy-novar 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.

 

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