ClinVar

NM_005572.4(LMNA):c.1712G>A (p.Arg571His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156137757 (on Assembly GRCh38)
• Chr1: 156107548 (on Assembly GRCh37)

Preferred name:

NM_005572.4(LMNA):c.1712G>A (p.Arg571His)

HGVS:

• NC_000001.11:g.156137757G>A
• NG_008692.2:g.60185G>A
• NM_001257374.3:c.1362+14G>A
• NM_001282624.2:c.1469G>A
• NM_001282625.2:c.1712G>A
• NM_001282626.2:c.1698+14G>A
• NM_005572.4:c.1712G>A
• NM_170707.4:c.1698+14G>AMANE SELECT
• NM_170708.4:c.1608+525G>A
• NP_001269553.1:p.Arg490His
• NP_001269554.1:p.Arg571His
• NP_005563.1:p.Arg571His
• NP_005563.1:p.Arg571His
• LRG_254t1:c.1712G>A
• LRG_254t2:c.1698+14G>A
• LRG_254:g.60185G>A
• LRG_254p1:p.Arg571His
• NC_000001.10:g.156107548G>A
• NM_005572.3:c.1712G>A
• NM_170707.2:c.1698+14G>A

This HGVS expression did not pass validation

Protein change:

R490H

Links:

dbSNP: rs200917748

NCBI 1000 Genomes Browser:

rs200917748

Molecular consequence:

• NM_001257374.3:c.1362+14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282626.2:c.1698+14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_170707.4:c.1698+14G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_170708.4:c.1608+525G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282624.2:c.1469G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282625.2:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005572.4:c.1712G>A - missense variant - [Sequence Ontology: SO:0001583]