SMOC1 – NM_001034852.2:c.910delG

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

c.910delG (p.Asp305Metfs*59) exon 9

rs number / neighbourhood
no rs number
TACAGAGGCG[G/-]ATGACCCCTT

Genomic Coordinates
GRCh37/hg19: chr14:70478254
GRCh38/hg38: chr14:70011537

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


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 21750680.


#1 PMID: 21750680.

Clinical Sign HPO ID
Upper limb, cutaneous syndactyly HP:0010554
Lower Limb, cutaneous syndactyly from 3 to 5 toes HP:0010716
Horseshoe kidney HP:0000085
Hypospadias HP:0000047

 

 

12-c-910a

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: 21750680.

Clinical Sign HPO ID
Bilateral anophthalmia HP:0000528
Upper limb, cutaneous syndactyly HP:0010554
Hypoplasia of the 5th finger HP:0006262
Lower limbs, postaxial oligodactyly HP:0006210
Lower Limb, cutaneous syndactyly 2–4 right HP:0005768
Lower Limb, cutaneous syndactyly 2/3 left HP:0005709
Cleft palate HP:0000175
Horseshoe kidney HP:0000085
Mental retardation HP:0001249

 

 

12-c-910b

 

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 both patients (reported as c.911delG in the paper).

 

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