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NM_001079802.2(FKTN):c.126del (p.Lys42fs) AND Global developmental delay

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2020
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:
RCV001527601.2

Allele description [Variation Report for NM_001079802.2(FKTN):c.126del (p.Lys42fs)]

NM_001079802.2(FKTN):c.126del (p.Lys42fs)

Gene:
FKTN:fukutin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q31.2
Genomic location:
Preferred name:
NM_001079802.2(FKTN):c.126del (p.Lys42fs)
HGVS:
  • NC_000009.12:g.105596618del
  • NG_008754.1:g.43489del
  • NM_001079802.2:c.126delMANE SELECT
  • NM_001198963.2:c.126del
  • NM_001351496.2:c.126del
  • NM_001351497.2:c.-42del
  • NM_001351498.2:c.126del
  • NM_001351499.2:c.-389del
  • NM_001351500.2:c.-389del
  • NM_001351501.2:c.-389del
  • NM_001351502.2:c.-389del
  • NM_006731.2:c.126del
  • NP_001073270.1:p.Lys42fs
  • NP_001185892.1:p.Lys42fs
  • NP_001338425.1:p.Lys42fs
  • NP_001338427.1:p.Lys42fs
  • NP_006722.2:p.Lys42fs
  • LRG_434t2:c.126del
  • LRG_434:g.43489del
  • LRG_434p2:p.Lys42fs
  • NC_000009.11:g.108358899del
  • NR_147213.2:n.341del
  • NR_147214.2:n.249del
Protein change:
K42fs
Links:
dbSNP: rs2132595043
NCBI 1000 Genomes Browser:
rs2132595043
Molecular consequence:
  • NM_001351497.2:c.-42del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351499.2:c.-389del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351500.2:c.-389del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351501.2:c.-389del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001351502.2:c.-389del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001079802.2:c.126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001198963.2:c.126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351496.2:c.126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351498.2:c.126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006731.2:c.126del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_147213.2:n.341del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147214.2:n.249del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001738711Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
no assertion criteria provided
Uncertain significance
(Jan 1, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV001738711.1

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

Last Updated: Oct 8, 2024