SMOC1 – NM_001034852.2:c.848C>A

SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2

c.848C>A (p.Thr283Asn) exon 8

rs number / neighbourhood
no rs number
CTGCCTGGGA[C/A]CTCCACACGG

Genomic Coordinates
GRCh37/hg19: chr14:70477654
GRCh38/hg38: chr14:70010937

Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 21750680PMID: 7573150.


#1 PMID: 21750680PMID: 7573150.

Clinical Sign HPO ID
Bilateral anophthalmia HP:0000528
Upper limbs, short 5th metacarpal HP:0010047
Lower limbs, right fusion 4/5 metatarsal & phalanx HP:0004692
Lower limbs, cut synd 2-5 HP:0010621

10-c848a

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 patients. The patient was firstly reviewed by Sayli.


#2 PMID: 21750680PMID: 7573150.

Clinical Sign HPO ID
Bilateral anophthalmia HP:0000528
Upper limbs, short 5th metacarpal HP:0010047
Lower limbs, cut synd 2-5 HP:0010621

10-c848b

black Affected individual – variant in a homozygous state
unknow-affected Affected individual – genotype unknown
carrier Not affected individual – variant in a heterozygous state (carrier)
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 patients . The patient was firstly reviewed by Sayli.

 

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