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NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) 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:
RCV000057340.9

Allele description [Variation Report for NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)]

NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)
HGVS:
  • NC_000001.11:g.156137664T>C
  • NG_008692.2:g.60092T>C
  • NM_001257374.3:c.1283T>C
  • NM_001282624.2:c.1376T>C
  • NM_001282625.2:c.1619T>C
  • NM_001282626.2:c.1619T>C
  • NM_005572.4:c.1619T>C
  • NM_170707.4:c.1619T>CMANE SELECT
  • NM_170708.4:c.1608+432T>C
  • NP_001244303.1:p.Met428Thr
  • NP_001269553.1:p.Met459Thr
  • NP_001269554.1:p.Met540Thr
  • NP_001269555.1:p.Met540Thr
  • NP_005563.1:p.Met540Thr
  • NP_733821.1:p.Met540Thr
  • LRG_254t2:c.1619T>C
  • LRG_254:g.60092T>C
  • LRG_254p2:p.Met540Thr
  • NC_000001.10:g.156107455T>C
  • NM_170707.2:c.1619T>C
  • NM_170707.3:c.1619T>C
Protein change:
M428T
Links:
dbSNP: rs267607547
NCBI 1000 Genomes Browser:
rs267607547
Molecular consequence:
  • NM_170708.4:c.1608+432T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257374.3:c.1283T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.1376T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.1619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.1619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.1619T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.1619T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000088453Epithelial Biology; Institute of Medical Biology, Singapore
no classification provided
not providednot providednot provided

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, SCV000088453.1

#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 3, 2024