ClinVar

NM_170707.4(LMNA):c.369G>A (p.Lys123=)

Genes:

LOC126805877:MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 [Gene]
LMNA:lamin A/C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156130629 (on Assembly GRCh38)
• Chr1: 156100420 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.369G>A (p.Lys123=)

HGVS:

• NC_000001.11:g.156130629G>A
• NG_008692.2:g.53057G>A
• NM_001257374.3:c.33G>A
• NM_001282624.2:c.126G>A
• NM_001282625.2:c.369G>A
• NM_001282626.2:c.369G>A
• NM_005572.4:c.369G>A
• NM_170707.4:c.369G>AMANE SELECT
• NM_170708.4:c.369G>A
• NP_001244303.1:p.Lys11=
• NP_001269553.1:p.Lys42=
• NP_001269554.1:p.Lys123=
• NP_001269555.1:p.Lys123=
• NP_005563.1:p.Lys123=
• NP_733821.1:p.Lys123=
• NP_733822.1:p.Lys123=
• LRG_254t2:c.369G>A
• LRG_254:g.53057G>A
• NC_000001.10:g.156100420G>A
• NM_170707.2:c.369G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs367938270

NCBI 1000 Genomes Browser:

rs367938270

Molecular consequence:

• NM_001257374.3:c.33G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282624.2:c.126G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282625.2:c.369G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282626.2:c.369G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005572.4:c.369G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170707.4:c.369G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170708.4:c.369G>A - synonymous variant - [Sequence Ontology: SO:0001819]