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NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) AND not specified

Germline classification:
Benign (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:
RCV001700213.10

Allele description [Variation Report for NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del)]

NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del)

Gene:
WNK1:WNK lysine deficient protein kinase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p13.33
Genomic location:
Preferred name:
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del)
HGVS:
  • NC_000012.11:g.1003758_1003766del
  • NC_000012.12:g.894594_894602del
  • NG_007984.3:g.146536_146544del
  • NM_001184985.2:c.6322_6330del
  • NM_014823.3:c.4798_4806del
  • NM_018979.4:c.5542_5550delMANE SELECT
  • NM_213655.5:c.6298_6306del
  • NP_001171914.1:p.Thr2108_Ser2110del
  • NP_055638.2:p.Thr1600_Ser1602del
  • NP_061852.3:p.Thr1848_Ser1850del
  • NP_998820.3:p.Thr2100_Ser2102del
  • NP_998820.3:p.Thr2100_Ser2102del
  • LRG_247t1:c.5542_5550del
  • LRG_247t2:c.6298_6306del
  • LRG_247:g.146536_146544del
  • LRG_247p1:p.Thr1848_Ser1850del
  • LRG_247p2:p.Thr2100_Ser2102del
  • NC_000012.11:g.1003758_1003766del
  • NC_000012.11:g.1003760_1003768del
  • NC_000012.11:g.1003760_1003768delACTAGTTCA
  • NM_018979.3:c.5542_5550delACTAGTTCA
  • NM_213655.4:c.6298_6306del
Links:
dbSNP: rs544395150
NCBI 1000 Genomes Browser:
rs544395150
Molecular consequence:
  • NM_001184985.2:c.6322_6330del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_014823.3:c.4798_4806del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_018979.4:c.5542_5550del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_213655.5:c.6298_6306del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV001922768Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001922768.1

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

Last Updated: Nov 3, 2024