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NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys) AND VATER association

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000201858.2

Allele description [Variation Report for NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys)]

NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys)

Gene:
FOXF1:forkhead box F1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.1
Genomic location:
Preferred name:
NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys)
HGVS:
  • NC_000016.10:g.86511227G>T
  • NG_016273.1:g.5701G>T
  • NM_001451.3:c.658G>TMANE SELECT
  • NP_001442.2:p.Gly220Cys
  • NC_000016.9:g.86544833G>T
  • NM_001451.2:c.658G>T
Protein change:
G220C
Links:
dbSNP: rs752504125
NCBI 1000 Genomes Browser:
rs752504125
Molecular consequence:
  • NM_001451.3:c.658G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
VATER association
Synonyms:
VACTERL/vater association
Identifiers:
MONDO: MONDO:0008642; MedGen: C4225671; Orphanet: 887; OMIM: 192350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000222774Reutter Lab, Institute of Human Genetics, University Hospital Bonn - Systematic search for genes to be involved in the VACTER/VACTERL association
criteria provided, single submitter

(Submitter's publication)		Likely pathogenic
(Jan 1, 2015) 		de novoresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedresearch

Citations

PubMed

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.

Hilger AC, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun DA, Porath JD, Kohl S, Hwang DY, Dworschak GC, Hermann BG, Pavlova A, El-Maarri O, Nöthen MM, Ludwig M, Reutter H, Hildebrandt F.

Hum Mutat. 2015 Dec;36(12):1150-4. doi: 10.1002/humu.22859. Epub 2015 Sep 14.

PubMed [citation]
PMID:
26294094
PMCID:
PMC4643331

[Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail].

Grechenko TN.

Zh Vyssh Nerv Deiat Im I P Pavlova. 1989 Nov-Dec;39(6):1170-2. Russian. No abstract available.

PubMed [citation]
PMID:
2629409

Details of each submission

From Reutter Lab, Institute of Human Genetics, University Hospital Bonn - Systematic search for genes to be involved in the VACTER/VACTERL association, SCV000222774.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: May 7, 2024