ClinVar

NM_170707.4(LMNA):c.289A>G (p.Lys97Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156115207 (on Assembly GRCh38)
• Chr1: 156084998 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.289A>G (p.Lys97Glu)

HGVS:

• NC_000001.11:g.156115207A>G
• NG_008692.2:g.37635A>G
• NM_001282625.2:c.289A>G
• NM_001282626.2:c.289A>G
• NM_005572.4:c.289A>G
• NM_170707.4:c.289A>GMANE SELECT
• NM_170708.4:c.289A>G
• NP_001269554.1:p.Lys97Glu
• NP_001269555.1:p.Lys97Glu
• NP_005563.1:p.Lys97Glu
• NP_733821.1:p.Lys97Glu
• NP_733822.1:p.Lys97Glu
• LRG_254t2:c.289A>G
• LRG_254:g.37635A>G
• NC_000001.10:g.156084998A>G
• NM_170707.2:c.289A>G
• P02545:p.Lys97Glu

This HGVS expression did not pass validation

Protein change:

K97E

Links:

UniProtKB: P02545#VAR_039759; dbSNP: rs59065411

NCBI 1000 Genomes Browser:

rs59065411

Molecular consequence:

• NM_001282625.2:c.289A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282626.2:c.289A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005572.4:c.289A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_170707.4:c.289A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_170708.4:c.289A>G - missense variant - [Sequence Ontology: SO:0001583]