NM_007078.3(LDB3):c.273G>A (p.Thr91=) AND Dilated cardiomyopathy 1C

Clinical significance:Benign (Last evaluated: Nov 11, 2014)

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:
RCV001293329.1

Allele description [Variation Report for NM_007078.3(LDB3):c.273G>A (p.Thr91=)]

NM_007078.3(LDB3):c.273G>A (p.Thr91=)

Gene:
LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_007078.3(LDB3):c.273G>A (p.Thr91=)
HGVS:
  • NC_000010.11:g.86680109G>A
  • NG_008876.1:g.16546G>A
  • NM_001080114.2:c.273G>A
  • NM_001080115.2:c.273G>A
  • NM_001080116.1:c.273G>A
  • NM_001171610.2:c.273G>A
  • NM_001171611.2:c.273G>A
  • NM_001368063.1:c.273G>A
  • NM_001368064.1:c.273G>A
  • NM_001368065.1:c.273G>A
  • NM_001368066.1:c.273G>A
  • NM_001368067.1:c.273G>A
  • NM_001368068.1:c.273G>A
  • NM_007078.3:c.273G>AMANE SELECT
  • NP_001073583.1:p.Thr91=
  • NP_001073584.1:p.Thr91=
  • NP_001073585.1:p.Thr91=
  • NP_001165081.1:p.Thr91=
  • NP_001165082.1:p.Thr91=
  • NP_001354992.1:p.Thr91=
  • NP_001354993.1:p.Thr91=
  • NP_001354994.1:p.Thr91=
  • NP_001354995.1:p.Thr91=
  • NP_001354996.1:p.Thr91=
  • NP_001354997.1:p.Thr91=
  • NP_009009.1:p.Thr91=
  • LRG_385t1:c.273G>A
  • LRG_385t2:c.273G>A
  • LRG_385:g.16546G>A
  • LRG_385p2:p.Thr91=
  • NC_000010.10:g.88439866G>A
  • NM_007078.2:c.273G>A
  • c.273G>A
  • p.Thr91Thr
Links:
dbSNP: rs45613039
NCBI 1000 Genomes Browser:
rs45613039
Molecular consequence:
  • NM_001080114.2:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001080115.2:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001080116.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171610.2:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171611.2:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368063.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368064.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368065.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368066.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368067.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368068.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007078.3:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Dilated cardiomyopathy 1C (CMD1C)
Synonyms:
Cardiomyopathy, dilated, with left ventricular noncompaction; CARDIOMYOPATHY, DILATED, 1C, WITH LEFT VENTRICULAR NONCOMPACTION; CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
Identifiers:
MONDO: MONDO:0011094; MedGen: C1832244; Orphanet: 154; Orphanet: 54260; OMIM: 601493

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001481916Cytogenetics- Mohapatra Lab, Banaras Hindu Universityno assertion criteria providedBenign
(Nov 11, 2014)
unknowncase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indianunknownyes5not providednot providednot providednot providedcase-control

Details of each submission

From Cytogenetics- Mohapatra Lab, Banaras Hindu University, SCV001481916.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian5not providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided5not providednot providednot provided

Last Updated: Jul 7, 2021

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