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NM_012431.3(SEMA3E):c.1873G>A (p.Glu625Lys) AND Dilated cardiomyopathy 1A

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002259536.1

Allele description [Variation Report for NM_012431.3(SEMA3E):c.1873G>A (p.Glu625Lys)]

NM_012431.3(SEMA3E):c.1873G>A (p.Glu625Lys)

Gene:
SEMA3E:semaphorin 3E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.11
Genomic location:
Preferred name:
NM_012431.3(SEMA3E):c.1873G>A (p.Glu625Lys)
HGVS:
  • NC_000007.14:g.83385296C>T
  • NG_021242.2:g.268868G>A
  • NM_001178129.2:c.1693G>A
  • NM_012431.3:c.1873G>AMANE SELECT
  • NP_001171600.1:p.Glu565Lys
  • NP_036563.1:p.Glu625Lys
  • LRG_1287t1:c.1873G>A
  • LRG_1287:g.268868G>A
  • LRG_1287p1:p.Glu625Lys
  • NC_000007.13:g.83014612C>T
  • NM_012431.2:c.1873G>A
Protein change:
E565K
Links:
dbSNP: rs2116916386
NCBI 1000 Genomes Browser:
rs2116916386
Molecular consequence:
  • NM_001178129.2:c.1693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012431.3:c.1873G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1A (CMD1A)
Synonyms:
CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002538693Cytogenetics- Mohapatra Lab, Banaras Hindu University
no assertion criteria provided
Likely pathogenicgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Cytogenetics- Mohapatra Lab, Banaras Hindu University, SCV002538693.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024