ClinVar

NM_170707.4(LMNA):c.1149G>A (p.Glu383=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156136113 (on Assembly GRCh38)
• Chr1: 156105904 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1149G>A (p.Glu383=)

HGVS:

• NC_000001.11:g.156136113G>A
• NG_008692.2:g.58541G>A
• NM_001257374.3:c.813G>A
• NM_001282624.2:c.906G>A
• NM_001282625.2:c.1149G>A
• NM_001282626.2:c.1149G>A
• NM_005572.4:c.1149G>A
• NM_170707.4:c.1149G>AMANE SELECT
• NM_170708.4:c.1149G>A
• NP_001244303.1:p.Glu271=
• NP_001269553.1:p.Glu302=
• NP_001269554.1:p.Glu383=
• NP_001269555.1:p.Glu383=
• NP_005563.1:p.Glu383=
• NP_005563.1:p.Glu383=
• NP_733821.1:p.Glu383=
• NP_733822.1:p.Glu383=
• LRG_254t1:c.1149G>A
• LRG_254t2:c.1149G>A
• LRG_254:g.58541G>A
• LRG_254p1:p.Glu383=
• NC_000001.10:g.156105904G>A
• NM_005572.3:c.1149G>A
• NM_170707.2:c.1149G>A
• NM_170707.3:c.1149G>A
• NP_005563.1:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs267607603

NCBI 1000 Genomes Browser:

rs267607603

Molecular consequence:

• NM_001257374.3:c.813G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282624.2:c.906G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282625.2:c.1149G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282626.2:c.1149G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005572.4:c.1149G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170707.4:c.1149G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170708.4:c.1149G>A - synonymous variant - [Sequence Ontology: SO:0001819]