NM_001128840.3(CACNA1D):c.1220+678G>A AND not provided

Clinical significance:Likely pathogenic

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:
RCV000122469.1

Allele description [Variation Report for NM_001128840.3(CACNA1D):c.1220+678G>A]

NM_001128840.3(CACNA1D):c.1220+678G>A

Gene:
CACNA1D:calcium voltage-gated channel subunit alpha1 D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.1
Genomic location:
Preferred name:
NM_001128840.3(CACNA1D):c.1220+678G>A
HGVS:
  • NC_000003.12:g.53673804G>A
  • NG_032999.1:g.183756G>A
  • NM_000720.4:c.1208G>A
  • NM_001128839.3:c.1220+678G>A
  • NM_001128840.3:c.1220+678G>AMANE SELECT
  • NP_000711.1:p.Gly403Asp
  • NC_000003.11:g.53707831G>A
  • NM_000720.2:c.1208G>A
  • NM_000720.3:c.1208G>A
Protein change:
G403D; GLY403ASP
Links:
OMIM: 114206.0002; dbSNP: rs386834264
NCBI 1000 Genomes Browser:
rs386834264
Molecular consequence:
  • NM_001128839.3:c.1220+678G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128840.3:c.1220+678G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000720.4:c.1208G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000154977Richard Lifton Laboratory, Yale University School of Medicineno assertion criteria providedprobable-pathogenicgermlinenot provided

Description

CACNA1D

SCV000154977

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Richard Lifton Laboratory, Yale University School of Medicine, SCV000154977.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Aug 6, 2020

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