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NM_170707.4(LMNA):c.1102_1130dup (p.Lys378fs) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000057232.1

Allele description [Variation Report for NM_170707.4(LMNA):c.1102_1130dup (p.Lys378fs)]

NM_170707.4(LMNA):c.1102_1130dup (p.Lys378fs)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.1102_1130dup (p.Lys378fs)
HGVS:
  • NC_000001.11:g.156136066_156136094dup
  • NG_008692.2:g.58494_58522dup
  • NM_001257374.3:c.766_794dup
  • NM_001282624.2:c.859_887dup
  • NM_001282625.2:c.1102_1130dup
  • NM_001282626.2:c.1102_1130dup
  • NM_005572.4:c.1102_1130dup
  • NM_170707.4:c.1102_1130dupMANE SELECT
  • NM_170708.4:c.1102_1130dup
  • NP_001244303.1:p.Lys266fs
  • NP_001269553.1:p.Lys297fs
  • NP_001269554.1:p.Lys378fs
  • NP_001269555.1:p.Lys378fs
  • NP_005563.1:p.Lys378fs
  • NP_733821.1:p.Lys378fs
  • NP_733822.1:p.Lys378fs
  • LRG_254t2:c.1102_1130dup29
  • LRG_254:g.58494_58522dup
  • NC_000001.10:g.156105857_156105885dup
  • NM_170707.2:c.1102_1130dup29
Protein change:
K266fs
Links:
dbSNP: rs267607624
NCBI 1000 Genomes Browser:
rs267607624
Molecular consequence:
  • NM_001257374.3:c.766_794dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282624.2:c.859_887dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282625.2:c.1102_1130dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282626.2:c.1102_1130dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005572.4:c.1102_1130dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_170707.4:c.1102_1130dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_170708.4:c.1102_1130dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000088345Epithelial Biology; Institute of Medical Biology, Singapore
no classification provided
not providednot providednot provided

Help

Summary from all submissions

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

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088345.1

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

Last Updated: Nov 5, 2022