ClinVar

NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)

Gene:

LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156136103 (on Assembly GRCh38)
• Chr1: 156105894 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser)

HGVS:

• NC_000001.11:g.156136103T>C
• NG_008692.2:g.58531T>C
• NM_001257374.3:c.803T>C
• NM_001282624.2:c.896T>C
• NM_001282625.2:c.1139T>C
• NM_001282626.2:c.1139T>C
• NM_005572.4:c.1139T>C
• NM_170707.4:c.1139T>CMANE SELECT
• NM_170708.4:c.1139T>C
• NP_001244303.1:p.Leu268Ser
• NP_001269553.1:p.Leu299Ser
• NP_001269554.1:p.Leu380Ser
• NP_001269555.1:p.Leu380Ser
• NP_005563.1:p.Leu380Ser
• NP_733821.1:p.Leu380Ser
• NP_733822.1:p.Leu380Ser
• LRG_254t2:c.1139T>C
• LRG_254:g.58531T>C
• NC_000001.10:g.156105894T>C
• NM_170707.2:c.1139T>C
• P02545:p.Leu380Ser

This HGVS expression did not pass validation

Protein change:

L268S; LEU380SER

Links:

UniProtKB: P02545#VAR_063591; OMIM: 150330.0047; dbSNP: rs121912495

NCBI 1000 Genomes Browser:

rs121912495

Molecular consequence:

• NM_001257374.3:c.803T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282624.2:c.896T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282625.2:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282626.2:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005572.4:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_170707.4:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_170708.4:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]