NM_001963.5(EGF):c.1292G>A (p.Arg431Lys) AND Renal Hypomagnesemia, Recessive

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000284265.1

Allele description [Variation Report for NM_001963.5(EGF):c.1292G>A (p.Arg431Lys)]

NM_001963.5(EGF):c.1292G>A (p.Arg431Lys)

Gene:
EGF:epidermal growth factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q25
Genomic location:
Preferred name:
NM_001963.5(EGF):c.1292G>A (p.Arg431Lys)
HGVS:
  • NC_000004.12:g.109961965G>A
  • NG_011441.1:g.54082G>A
  • NM_001963.5:c.1292G>A
  • NP_001954.2:p.Arg431Lys
  • NC_000004.11:g.110883121G>A
  • NM_001963.4:c.1292G>A
  • P01133:p.Arg431Lys
Protein change:
R431K
Links:
UniProtKB: P01133#VAR_020162; dbSNP: rs11568943
GMAF:
0.1653(A), 11568943
NCBI 1000 Genomes Browser:
rs11568943
Allele Frequency:
0.09846(A)
Molecular consequence:
  • NM_001963.5:c.1292G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Renal Hypomagnesemia, Recessive
Identifiers:
MedGen: CN239444

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000446959Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000446959.2

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

Last Updated: Jul 21, 2018