NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter) 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:: RCV002281584.2

Allele description [Variation Report for NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter)]

NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q12

Genomic location:

Preferred name:

NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter)

HGVS:

NC_000014.9:g.28768449C>A
NG_009367.1:g.6369C>A
NM_005249.5:c.1170C>AMANE SELECT
NP_005240.3:p.Cys390Ter
NC_000014.8:g.29237655C>A
NM_005249.4:c.1170C>A

Protein change:

C390*

Links:

dbSNP: rs1392520466

NCBI 1000 Genomes Browser:

rs1392520466

Molecular consequence:

NM_005249.5:c.1170C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

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Ufm1 ubiquitin-fold modifier 1 [Mus musculus]
Ufm1 ubiquitin-fold modifier 1 [Mus musculus]
Gene ID:67890

Gene
IMPDH2 inosine monophosphate dehydrogenase 2 [Homo sapiens]
IMPDH2 inosine monophosphate dehydrogenase 2 [Homo sapiens]
Gene ID:3615

Gene
Gene Links for GEO Profiles (Select 96330641) (1)
Gene
3D structures for Gene (Select 3615) (18)
Structure
Homo sapiens inosine monophosphate dehydrogenase 2 (IMPDH2), transcript variant ...
Homo sapiens inosine monophosphate dehydrogenase 2 (IMPDH2), transcript variant 1, mRNA
gi|2286439300|ref|NM_001410759.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002570072	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

SCV002570072

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, SCV002570072.1

#	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: Oct 20, 2024

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