NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Apr 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000512817.1

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs)]

NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs)

Genes:
NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q13.3
Genomic location:
Preferred name:
NM_001079668.3(NKX2-1):c.1003del (p.Ser335fs)
HGVS:
  • NC_000014.9:g.36517481del
  • NG_013365.1:g.7745del
  • NM_001079668.3:c.1003del
  • NM_003317.4:c.913del
  • NP_001073136.1:p.Ser335fs
  • NP_003308.1:p.Ser305fs
  • NC_000014.8:g.36986686del
Protein change:
S305fs
Links:
dbSNP: rs1555349149
NCBI 1000 Genomes Browser:
rs1555349149
Molecular consequence:
  • NM_001079668.3:c.1003del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003317.4:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000608698CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Apr 30, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000608698.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 2, 2019

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