NM_005249.5(FOXG1):c.841del (p.Arg281fs) AND Rett syndrome, congenital variant

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 8, 2002
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:: RCV002281625.1

Allele description [Variation Report for NM_005249.5(FOXG1):c.841del (p.Arg281fs)]

NM_005249.5(FOXG1):c.841del (p.Arg281fs)

Gene:

FOXG1:forkhead box G1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_005249.5(FOXG1):c.841del (p.Arg281fs)

HGVS:

NC_000014.9:g.28768120del
NG_009367.1:g.6040del
NM_005249.5:c.841delMANE SELECT
NP_005240.3:p.Arg281fs
NC_000014.8:g.29237326del
NM_005249.4:c.841delC

Protein change:

R281fs

Molecular consequence:

NM_005249.5:c.841del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Rett syndrome, congenital variant
Identifiers:: MONDO: MONDO:0013270; MedGen: C3150705; Orphanet: 3095; OMIM: 613454

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002570071	Center of Excellence for Medical Genomics, Chulalongkorn University	no assertion criteria provided	Pathogenic (Sep 8, 2002)	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002570071

Center of Excellence for Medical Genomics, Chulalongkorn University

no assertion criteria provided

Pathogenic
(Sep 8, 2002)

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Center of Excellence for Medical Genomics, Chulalongkorn University, SCV002570071.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

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

Last Updated: Dec 2, 2023

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