NM_005249.5(FOXG1):c.788_792del (p.Asp263fs) AND Rett syndrome, congenital variant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 18, 2014
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:
RCV000170084.1

Allele description [Variation Report for NM_005249.5(FOXG1):c.788_792del (p.Asp263fs)]

NM_005249.5(FOXG1):c.788_792del (p.Asp263fs)

Gene:
FOXG1:forkhead box G1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_005249.5(FOXG1):c.788_792del (p.Asp263fs)
Other names:
NM_005249.5(FOXG1):c.788_792del; p.Asp263fs
HGVS:
  • NC_000014.9:g.28768067_28768071del
  • NG_009367.1:g.5987_5991del
  • NM_005249.5:c.788_792delMANE SELECT
  • NP_005240.3:p.Asp263fs
  • NC_000014.8:g.29237273_29237277del
  • NM_005249.4:c.788_792delACGTG
Protein change:
D263fs
Links:
dbSNP: rs786205010
NCBI 1000 Genomes Browser:
rs786205010
Molecular consequence:
  • NM_005249.5:c.788_792del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000222399RettBASE
no assertion criteria provided
Pathogenic
(Mar 18, 2014) 		de novocuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1Nocuration

Citations

PubMed

Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.

Das DK, Jadhav V, Ghattargi VC, Udani V.

Gene. 2014 Mar 15;538(1):109-12. doi: 10.1016/j.gene.2013.12.063. Epub 2014 Jan 9.

PubMed [citation]
PMID:
24412290

Details of each submission

From RettBASE, SCV000222399.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedNocuration PubMed (1)

Description

"Rett syndrome - congenital"

PubMed [ID: 24412290]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1bloodnot provided1not providednot providednot provided

Last Updated: Feb 16, 2025