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NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe) AND Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 20, 2018
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:
RCV001263246.1

Allele description [Variation Report for NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)]

NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)

Gene:
PIEZO1:piezo type mechanosensitive ion channel component 1 (Er blood group) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)
HGVS:
  • NC_000016.10:g.88719845G>A
  • NG_042229.1:g.70376C>T
  • NM_001142864.4:c.6280C>TMANE SELECT
  • NP_001136336.2:p.Leu2094Phe
  • LRG_1137t1:c.6280C>T
  • LRG_1137:g.70376C>T
  • LRG_1137p1:p.Leu2094Phe
  • NC_000016.9:g.88786253G>A
  • NM_001142864.2:c.6280C>T
Protein change:
L2094F
Links:
dbSNP: rs1027478327
NCBI 1000 Genomes Browser:
rs1027478327
Molecular consequence:
  • NM_001142864.4:c.6280C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS1)
Synonyms:
PSEUDOHYPERKALEMIA EDINBURGH; DEHYDRATED HEREDITARY STOMATOCYTOSIS AND PSEUDOHYPERKALEMIA; DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008689; MedGen: C4551512; Orphanet: 3202; OMIM: 194380

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441277Coyote Medical Laboratory (Beijing), Coyote
no assertion criteria provided
Uncertain significance
(Aug 20, 2018) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providedyesclinical testing

Details of each submission

From Coyote Medical Laboratory (Beijing), Coyote, SCV001441277.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot provideddiscovery1not provided1not provided

Last Updated: Jul 23, 2024