ClinVar

NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156136413 (on Assembly GRCh38)
• Chr1: 156106204 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)

HGVS:

• NC_000001.11:g.156136413C>T
• NG_008692.2:g.58841C>T
• NM_001257374.3:c.1021C>T
• NM_001282624.2:c.1114C>T
• NM_001282625.2:c.1357C>T
• NM_001282626.2:c.1357C>T
• NM_005572.4:c.1357C>T
• NM_170707.4:c.1357C>TMANE SELECT
• NM_170708.4:c.1357C>T
• NP_001244303.1:p.Arg341Trp
• NP_001269553.1:p.Arg372Trp
• NP_001269554.1:p.Arg453Trp
• NP_001269555.1:p.Arg453Trp
• NP_005563.1:p.Arg453Trp
• NP_733821.1:p.Arg453Trp
• NP_733822.1:p.Arg453Trp
• LRG_254t2:c.1357C>T
• LRG_254:g.58841C>T
• NC_000001.10:g.156106204C>T
• NM_005572.4:c.1357C>T
• NM_170707.2:c.1357C>T
• NM_170707.3:c.1357C>T
• P02545:p.Arg453Trp

This HGVS expression did not pass validation

Protein change:

R341W; ARG453TRP

Links:

UniProtKB: P02545#VAR_009988; OMIM: 150330.0002; dbSNP: rs58932704

NCBI 1000 Genomes Browser:

rs58932704

Molecular consequence:

• NM_001257374.3:c.1021C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282624.2:c.1114C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282625.2:c.1357C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282626.2:c.1357C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005572.4:c.1357C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_170707.4:c.1357C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_170708.4:c.1357C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218]

Observations:

10