NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) AND not specified

Clinical significance:Benign (Last evaluated: Mar 21, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000173697.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)]

NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)

Genes:
CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
HGVS:
  • NC_000007.14:g.117548682C>A
  • NG_016465.4:g.87899C>A
  • NM_000492.4:c.1251C>AMANE SELECT
  • NP_000483.3:p.Asn417Lys
  • NP_000483.3:p.Asn417Lys
  • LRG_663t1:c.1251C>A
  • LRG_663:g.87899C>A
  • LRG_663p1:p.Asn417Lys
  • NC_000007.13:g.117188736C>A
  • NM_000492.3:c.1251C>A
Protein change:
N417K
Links:
dbSNP: rs4727853
NCBI 1000 Genomes Browser:
rs4727853
Molecular consequence:
  • NM_000492.4:c.1251C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000224841EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Mar 21, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000224841.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

Last Updated: Dec 4, 2021

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