ClinVar

NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156136094 (on Assembly GRCh38)
• Chr1: 156105885 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)

HGVS:

• NC_000001.11:g.156136094G>T
• NG_008692.2:g.58522G>T
• NM_001257374.3:c.794G>T
• NM_001282624.2:c.887G>T
• NM_001282625.2:c.1130G>T
• NM_001282626.2:c.1130G>T
• NM_005572.4:c.1130G>T
• NM_170707.4:c.1130G>TMANE SELECT
• NM_170708.4:c.1130G>T
• NP_001244303.1:p.Arg265Leu
• NP_001269553.1:p.Arg296Leu
• NP_001269554.1:p.Arg377Leu
• NP_001269555.1:p.Arg377Leu
• NP_005563.1:p.Arg377Leu
• NP_733821.1:p.Arg377Leu
• NP_733822.1:p.Arg377Leu
• LRG_254t2:c.1130G>T
• LRG_254:g.58522G>T
• NC_000001.10:g.156105885G>T
• NM_170707.2:c.1130G>T
• NM_170707.3:c.1130G>T
• P02545:p.Arg377Leu

This HGVS expression did not pass validation

Protein change:

R265L

Links:

UniProtKB: P02545#VAR_039777; dbSNP: rs61672878

NCBI 1000 Genomes Browser:

rs61672878

Molecular consequence:

• NM_001257374.3:c.794G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282624.2:c.887G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282625.2:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282626.2:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005572.4:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_170707.4:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_170708.4:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]