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NM_001368067.1(LDB3):c.546T>C (p.Ser182=) AND Dilated cardiomyopathy 1C

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 30, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001293331.9

Allele description [Variation Report for NM_001368067.1(LDB3):c.546T>C (p.Ser182=)]

NM_001368067.1(LDB3):c.546T>C (p.Ser182=)

Genes:
LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
LOC110121486:VISTA enhancer hs2143 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.2
Genomic location:
Preferred name:
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
HGVS:
  • NC_000010.11:g.86687270T>C
  • NG_008876.1:g.23707T>C
  • NG_054099.1:g.3299T>C
  • NM_001080114.2:c.546T>C
  • NM_001080115.2:c.690-4626T>C
  • NM_001080116.1:c.546T>C
  • NM_001171610.2:c.891T>C
  • NM_001171611.2:c.891T>C
  • NM_001368063.1:c.690-4626T>C
  • NM_001368064.1:c.690-4626T>C
  • NM_001368065.1:c.690-4626T>C
  • NM_001368066.1:c.546T>C
  • NM_001368067.1:c.546T>C
  • NM_001368068.1:c.546T>C
  • NM_007078.3:c.690-4626T>CMANE SELECT
  • NP_001073583.1:p.Ser182=
  • NP_001073585.1:p.Ser182=
  • NP_001165081.1:p.Ser297=
  • NP_001165082.1:p.Ser297=
  • NP_001354995.1:p.Ser182=
  • NP_001354996.1:p.Ser182=
  • NP_001354997.1:p.Ser182=
  • LRG_385t2:c.546T>C
  • LRG_385:g.23707T>C
  • LRG_385p2:p.Ser182=
  • NC_000010.10:g.88447027T>C
  • NM_001080114.1:c.546T>C
  • c.546T>C
  • p.Ser182Ser
Links:
dbSNP: rs71473272
NCBI 1000 Genomes Browser:
rs71473272
Molecular consequence:
  • NM_001080115.2:c.690-4626T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368063.1:c.690-4626T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368064.1:c.690-4626T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368065.1:c.690-4626T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007078.3:c.690-4626T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080114.2:c.546T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001080116.1:c.546T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171610.2:c.891T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171611.2:c.891T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368066.1:c.546T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368067.1:c.546T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368068.1:c.546T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001481919Cytogenetics- Mohapatra Lab, Banaras Hindu University
no assertion criteria provided
Benign
(Jan 30, 2015) 		unknowncase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indianunknownyes1not providednot providednot providednot providedcase-control

Details of each submission

From Cytogenetics- Mohapatra Lab, Banaras Hindu University, SCV001481919.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024