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NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu) AND Char syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000020530.4

Allele description [Variation Report for NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu)]

NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu)

Gene:
TFAP2B:transcription factor AP-2 beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu)
HGVS:
  • NC_000006.12:g.50823769C>A
  • NG_008438.1:g.10044C>A
  • NM_003221.4:c.444C>AMANE SELECT
  • NP_003212.2:p.Asp148Glu
  • NC_000006.11:g.50791482C>A
  • NM_003221.3:c.444C>A
  • X95694.1:c.411C>A
Protein change:
D148E
Links:
dbSNP: rs13216733
NCBI 1000 Genomes Browser:
rs13216733
Molecular consequence:
  • NM_003221.4:c.444C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Char syndrome (CHAR)
Synonyms:
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Identifiers:
MONDO: MONDO:0008209; MedGen: C1868570; Orphanet: 46627; OMIM: 169100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040991GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Char Syndrome.

Gelb BD.

2003 Aug 15 [updated 2020 May 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301285

Details of each submission

From GeneReviews, SCV000040991.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Oct 8, 2022