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).

 

Go back to the SMOC1 homepage

Tags

Leave a Reply

Your email address will not be published. Required fields are marked *

Feel free to call us to book your appointment

CONTACT FORM

CONTACT FORM

Enter Email
Confirm Email
Invio

Subscribe to our newsletter to receive news on the world of genetics.

We regularly send specific information for Patients and Professionals with updates and news.
No Spam, that's information.

Newsletter Signup

Newsletter Signup

First
Last