NM_001451.3(FOXF1):c.545C>T (p.Pro182Leu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 1, 2024
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:: RCV004572815.4

Allele description

NM_001451.3(FOXF1):c.545C>T (p.Pro182Leu)

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.545C>T (p.Pro182Leu)

HGVS:

NC_000016.10:g.86511114C>T
NG_016273.1:g.5588C>T
NM_001451.3:c.545C>TMANE SELECT
NP_001442.2:p.Pro182Leu
NC_000016.9:g.86544720C>T
NM_001451.2:c.545C>T

Protein change:

P182L

Molecular consequence:

NM_001451.3:c.545C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

transmembrane and TPR repeat-containing protein 4 isoform X6 [Apteryx rowi]
transmembrane and TPR repeat-containing protein 4 isoform X6 [Apteryx rowi]
gi|1444492231|ref|XP_025922337.1|

Protein
PREDICTED: Homo sapiens G protein-coupled receptor 146 (GPR146), transcript vari...
PREDICTED: Homo sapiens G protein-coupled receptor 146 (GPR146), transcript variant X1, mRNA
gi|2217365534|ref|XM_047419864.1|

Nucleotide
PREDICTED: Oncorhynchus kisutch polyadenylate-binding protein 1A (LOC116366029),...
PREDICTED: Oncorhynchus kisutch polyadenylate-binding protein 1A (LOC116366029), transcript variant X2, mRNA
gi|1782187296|ref|XM_031818335.1|

Nucleotide
GSE100397[Accession] (12)
GEO DataSets
Streptococcus canis strain E2 16S ribosomal RNA gene, partial sequence
Streptococcus canis strain E2 16S ribosomal RNA gene, partial sequence
gi|342220982|gb|JN176351.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005050993	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (May 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005050993

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(May 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV005050993.4

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

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine