NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND not specified

Clinical significance:Likely pathogenic (Last evaluated: Apr 18, 2016)

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:
RCV000678814.1

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)]

NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
HGVS:
  • NC_000011.10:g.2776997C>T
  • NG_008935.1:g.337007C>T
  • NM_000218.2:c.1697C>T
  • NM_000218.3:c.1697C>TMANE SELECT
  • NM_181798.1:c.1316C>T
  • NP_000209.2:p.Ser566Phe
  • NP_000209.2:p.Ser566Phe
  • NP_861463.1:p.Ser439Phe
  • LRG_287t1:c.1697C>T
  • LRG_287t2:c.1316C>T
  • LRG_287:g.337007C>T
  • LRG_287p1:p.Ser566Phe
  • LRG_287p2:p.Ser439Phe
  • NC_000011.9:g.2798227C>T
  • P51787:p.Ser566Phe
Protein change:
S439F
Links:
UniProtKB: P51787#VAR_009932; dbSNP: rs199472804
NCBI 1000 Genomes Browser:
rs199472804
Molecular consequence:
  • NM_000218.2:c.1697C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000218.3:c.1697C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000805000Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalno assertion criteria providedLikely pathogenic
(Apr 18, 2016)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000805000.1

#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: Oct 30, 2021

Support Center