SMOC1 – NM_001034852.2:c.832C>T

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

 

09-c-832

 

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 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.

 

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