U.S. flag

An official website of the United States government

NM_145037.4(NXPE3):c.463del (p.Ala155fs) AND Abnormality of neuronal migration

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 31, 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:
RCV000201360.2

Allele description [Variation Report for NM_145037.4(NXPE3):c.463del (p.Ala155fs)]

NM_145037.4(NXPE3):c.463del (p.Ala155fs)

Gene:
NXPE3:neurexophilin and PC-esterase domain family member 3 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q12.3
Genomic location:
Preferred name:
NM_145037.4(NXPE3):c.463del (p.Ala155fs)
HGVS:
  • NC_000003.12:g.101801604del
  • NG_053180.2:g.27420del
  • NM_001134456.2:c.463del
  • NM_001348990.2:c.463del
  • NM_001348991.2:c.463del
  • NM_001348992.2:c.463del
  • NM_001348993.2:c.463del
  • NM_001348994.2:c.463del
  • NM_001348995.2:c.463del
  • NM_001348996.2:c.463del
  • NM_001348997.2:c.463del
  • NM_001348998.2:c.463del
  • NM_145037.4:c.463delMANE SELECT
  • NP_001127928.1:p.Ala155fs
  • NP_001335919.1:p.Ala155fs
  • NP_001335920.1:p.Ala155fs
  • NP_001335921.1:p.Ala155fs
  • NP_001335922.1:p.Ala155fs
  • NP_001335923.1:p.Ala155fs
  • NP_001335924.1:p.Ala155fs
  • NP_001335925.1:p.Ala155fs
  • NP_001335926.1:p.Ala155fs
  • NP_001335927.1:p.Ala155fs
  • NP_659474.1:p.Ala155fs
  • NC_000003.11:g.101520448del
  • NG_053180.1:g.27420del
  • NM_001134456.1:c.462delG
  • NR_145993.2:n.1074del
Protein change:
A155fs
Links:
dbSNP: rs863223381
NCBI 1000 Genomes Browser:
rs863223381
Molecular consequence:
  • NM_001134456.2:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348990.2:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348991.2:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348992.2:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348993.2:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348994.2:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348995.2:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348996.2:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348997.2:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001348998.2:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_145037.4:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_145993.2:n.1074del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Abnormality of neuronal migration
Identifiers:
MedGen: C1837249; Human Phenotype Ontology: HP:0002269

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000239970Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire
no assertion criteria provided
Benign
(Oct 31, 2014) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes31not providednot providednot providedclinical testing

Details of each submission

From Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire, SCV000239970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided3not provided1not provided

Last Updated: Jun 23, 2024