NM_005477.3(HCN4):c.3351G>A (p.Pro1117=) AND not provided

Clinical significance:Likely benign (Last evaluated: Apr 23, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001562957.2

Allele description [Variation Report for NM_005477.3(HCN4):c.3351G>A (p.Pro1117=)]

NM_005477.3(HCN4):c.3351G>A (p.Pro1117=)

Gene:
HCN4:hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_005477.3(HCN4):c.3351G>A (p.Pro1117=)
HGVS:
  • NC_000015.10:g.73322742C>T
  • NG_009063.1:g.51523G>A
  • NM_005477.3:c.3351G>AMANE SELECT
  • NP_005468.1:p.Pro1117=
  • NC_000015.9:g.73615083C>T
  • NM_005477.2:c.3351G>A
Links:
dbSNP: rs375138488
NCBI 1000 Genomes Browser:
rs375138488
Molecular consequence:
  • NM_005477.3:c.3351G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001785810GeneDxcriteria provided, single submitter
Likely benign
(Apr 23, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001785810.1

#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: Sep 23, 2021

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