NM_001142617.1(STRA6):c.961A>C (p.Thr321Pro) AND Microphthalmia syndromic 9

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2007
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000001197.2

Allele description

NM_001142617.1(STRA6):c.961A>C (p.Thr321Pro)

Gene:

STRA6:stimulated by retinoic acid 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_001142617.1(STRA6):c.961A>C (p.Thr321Pro)

HGVS:

NC_000015.10:g.74189244T>G
NG_009207.1:g.24787A>C
NM_001142617.1:c.961A>C
NP_001136089.1:p.Thr321Pro
NC_000015.9:g.74481585T>G
Q9BX79:p.Thr321Pro

Protein change:

T321P; THR321PRO

Links:

UniProtKB: Q9BX79#VAR_037170; OMIM: 610745.0006; dbSNP: rs118203962

GMAF:

0.0004(G), 118203962

NCBI 1000 Genomes Browser:

rs118203962

Allele Frequency:

0.00072(G), GO-ESP

Molecular consequence:

NM_001142617.1:c.961A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Microphthalmia syndromic 9 (MCOPS9)
Synonyms:: ANOPHTHALMIA, CLINICAL, WITH MILD FACIAL DYSMORPHISM AND VARIABLE MALFORMATIONS OF THE LUNG, HEART, AND DIAPHRAGM; PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT
Identifiers:: MedGen: C1832661; Orphanet: 2470; OMIM: 601186

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021347	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021347

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2007)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, et al.

Am J Hum Genet. 2007 Mar;80(3):550-60. Epub 2007 Jan 29.

PubMed [citation]

PMID:: 17273977
PMCID:: PMC1821097

Details of each submission

From OMIM, SCV000021347.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

See 610745.0005 and Pasutto et al. (2007).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 6, 2017

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