NM_006492.3(ALX3):c.586C>T (p.Arg196Trp) AND Frontorhiny

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2009
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:: RCV000004911.5

Allele description [Variation Report for NM_006492.3(ALX3):c.586C>T (p.Arg196Trp)]

NM_006492.3(ALX3):c.586C>T (p.Arg196Trp)

Gene:

ALX3:ALX homeobox 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.3

Genomic location:

Preferred name:

NM_006492.3(ALX3):c.586C>T (p.Arg196Trp)

HGVS:

NC_000001.11:g.110064595G>A
NG_012039.1:g.11106C>T
NM_006492.3:c.586C>TMANE SELECT
NP_006483.2:p.Arg196Trp
LRG_1265t1:c.586C>T
LRG_1265:g.11106C>T
LRG_1265p1:p.Arg196Trp
NC_000001.10:g.110607217G>A
O95076:p.Arg196Trp

Protein change:

R196W; ARG196TRP

Links:

UniProtKB: O95076#VAR_063228; OMIM: 606014.0007; dbSNP: rs121908170

NCBI 1000 Genomes Browser:

rs121908170

Molecular consequence:

NM_006492.3:c.586C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Frontorhiny (FND1)
Synonyms:: FRONTONASAL MALFORMATION; Frontonasal dysplasia 1
Identifiers:: MONDO: MONDO:0007636; MedGen: C5574965; Orphanet: 391474; OMIM: 136760

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025087	OMIM	no assertion criteria provided	Pathogenic (May 1, 2009)	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

SCV000025087

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2009)

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

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO.

Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30.

PubMed [citation]

PMID:: 19409524
PMCID:: PMC2681074

Details of each submission

From OMIM, SCV000025087.4

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

Description

In 2 sibs with frontorhiny (FND1; 136760), born of consanguineous Indian parents, Twigg et al. (2009) identified homozygosity for a C-to-T transition at nucleotide 586 in exon 2 of the ALX3 gene, resulting in an arg-to-trp substitution at codon 196 (R196W). Both sibs had typical phenotypic features of the disorder as well as rugosity behind the external ears; the female also had notched alae nasi, and the male a bifid tongue.

#	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: Apr 15, 2024

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