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NM_004795.4(KL):c.2684T>C (p.Ile895Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
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:
RCV000054734.1

Allele description [Variation Report for NM_004795.4(KL):c.2684T>C (p.Ile895Thr)]

NM_004795.4(KL):c.2684T>C (p.Ile895Thr)

Gene:
KL:klotho [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_004795.4(KL):c.2684T>C (p.Ile895Thr)
HGVS:
  • NC_000013.11:g.33061763T>C
  • NG_011485.1:g.50330T>C
  • NM_004795.4:c.2684T>CMANE SELECT
  • NP_004786.2:p.Ile895Thr
  • NC_000013.10:g.33635900T>C
  • NM_004795.3:c.2684T>C
Protein change:
I895T
Links:
dbSNP: rs387907441
NCBI 1000 Genomes Browser:
rs387907441
Molecular consequence:
  • NM_004795.4:c.2684T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000077424Martin Pollak Laboratory, Beth Israel Deaconess Medical Center
no assertion criteria provided
unknownnot providednot provided

Description

Lower UCa2+ group

SCV000077424

Help

Summary from all submissions

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

Details of each submission

From Martin Pollak Laboratory, Beth Israel Deaconess Medical Center, SCV000077424.1

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

Description

Converted during submission to Uncertain significance.

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

Last Updated: Jan 7, 2023