NM_005477.3(HCN4):c.1915G>A (p.Val639Met) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 30, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000179452.1

Allele description [Variation Report for NM_005477.3(HCN4):c.1915G>A (p.Val639Met)]

NM_005477.3(HCN4):c.1915G>A (p.Val639Met)

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.1915G>A (p.Val639Met)
HGVS:
  • NC_000015.10:g.73325018C>T
  • NG_009063.1:g.49247G>A
  • NM_005477.3:c.1915G>AMANE SELECT
  • NP_005468.1:p.Val639Met
  • NC_000015.9:g.73617359C>T
Protein change:
V639M
Links:
dbSNP: rs563194186
NCBI 1000 Genomes Browser:
rs563194186
Molecular consequence:
  • NM_005477.3:c.1915G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000231703EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Nov 30, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000231703.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2021

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