NM_032387.4(WNK4):c.1222A>T (p.Ile408Phe) AND not provided

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000054781.1

Allele description [Variation Report for NM_032387.4(WNK4):c.1222A>T (p.Ile408Phe)]

NM_032387.4(WNK4):c.1222A>T (p.Ile408Phe)

Gene:
WNK4:WNK lysine deficient protein kinase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_032387.4(WNK4):c.1222A>T (p.Ile408Phe)
HGVS:
  • NC_000017.11:g.42785148A>T
  • NG_016227.1:g.9518A>T
  • NM_001321299.1:c.252-118A>T
  • NM_032387.4:c.1222A>T
  • NP_115763.2:p.Ile408Phe
  • NC_000017.10:g.40937166A>T
Protein change:
I408F
Links:
dbSNP: 369420670
NCBI 1000 Genomes Browser:
rs369420670
Allele Frequency:
0.0001, GO-ESP
Molecular consequence:
  • NM_001321299.1:c.252-118A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_032387.4:c.1222A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000077471Martin Pollak Beth Israel Deaconess Medical Center, Dept. of Nephrologyno assertion criteria providedunknownnot providednot provided

Description

Higher UCa2+ group

SCV000077471

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Martin Pollak Beth Israel Deaconess Medical Center, Dept. of Nephrology, SCV000077471.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Aug 21, 2016