ClinVar

NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156136934 (on Assembly GRCh38)
• Chr1: 156106725 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)

HGVS:

• NC_000001.11:g.156136934G>A
• NG_008692.2:g.59362G>A
• NM_001257374.3:c.1058G>A
• NM_001282624.2:c.1151G>A
• NM_001282625.2:c.1394G>A
• NM_001282626.2:c.1394G>A
• NM_005572.4:c.1394G>A
• NM_170707.4:c.1394G>AMANE SELECT
• NM_170708.4:c.1394G>A
• NP_001244303.1:p.Gly353Asp
• NP_001269553.1:p.Gly384Asp
• NP_001269554.1:p.Gly465Asp
• NP_001269555.1:p.Gly465Asp
• NP_005563.1:p.Gly465Asp
• NP_005563.1:p.Gly465Asp
• NP_733821.1:p.Gly465Asp
• NP_733822.1:p.Gly465Asp
• LRG_254t1:c.1394G>A
• LRG_254t2:c.1394G>A
• LRG_254:g.59362G>A
• LRG_254p1:p.Gly465Asp
• NC_000001.10:g.156106725G>A
• NM_005572.3:c.1394G>A
• NM_170707.2:c.1394G>A
• P02545:p.Gly465Asp

This HGVS expression did not pass validation

Protein change:

G353D; GLY465ASP

Links:

UniProtKB: P02545#VAR_009989; OMIM: 150330.0015; dbSNP: rs61282106

NCBI 1000 Genomes Browser:

rs61282106

Molecular consequence:

• NM_001257374.3:c.1058G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282624.2:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282625.2:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282626.2:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005572.4:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_170707.4:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_170708.4:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]