ClinVar

NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156134454 (on Assembly GRCh38)
• Chr1: 156104245 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)

HGVS:

• NC_000001.11:g.156134454C>T
• NG_008692.2:g.56882C>T
• NM_001257374.3:c.229C>T
• NM_001282624.2:c.322C>T
• NM_001282625.2:c.565C>T
• NM_001282626.2:c.565C>T
• NM_005572.4:c.565C>T
• NM_170707.4:c.565C>TMANE SELECT
• NM_170708.4:c.565C>T
• NP_001244303.1:p.Arg77Trp
• NP_001269553.1:p.Arg108Trp
• NP_001269554.1:p.Arg189Trp
• NP_001269555.1:p.Arg189Trp
• NP_005563.1:p.Arg189Trp
• NP_733821.1:p.Arg189Trp
• NP_733822.1:p.Arg189Trp
• LRG_254t2:c.565C>T
• LRG_254:g.56882C>T
• NC_000001.10:g.156104245C>T
• NM_001257374.1:c.229C>T
• NM_170707.2:c.565C>T
• NM_170707.3:c.565C>T

This HGVS expression did not pass validation

Protein change:

R108W

Links:

dbSNP: rs267607626

NCBI 1000 Genomes Browser:

rs267607626

Molecular consequence:

• NM_001257374.3:c.229C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282624.2:c.322C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282625.2:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282626.2:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005572.4:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_170707.4:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_170708.4:c.565C>T - missense variant - [Sequence Ontology: SO:0001583]