ClinVar

NM_170707.4(LMNA):c.1128C>T (p.Tyr376=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156136092 (on Assembly GRCh38)
• Chr1: 156105883 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1128C>T (p.Tyr376=)

HGVS:

• NC_000001.11:g.156136092C>T
• NG_008692.2:g.58520C>T
• NM_001257374.3:c.792C>T
• NM_001282624.2:c.885C>T
• NM_001282625.2:c.1128C>T
• NM_001282626.2:c.1128C>T
• NM_005572.4:c.1128C>T
• NM_170707.4:c.1128C>TMANE SELECT
• NM_170708.4:c.1128C>T
• NP_001244303.1:p.Tyr264=
• NP_001269553.1:p.Tyr295=
• NP_001269554.1:p.Tyr376=
• NP_001269555.1:p.Tyr376=
• NP_005563.1:p.Tyr376=
• NP_733821.1:p.Tyr376=
• NP_733822.1:p.Tyr376=
• LRG_254:g.58520C>T
• NC_000001.10:g.156105883C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1288715374

NCBI 1000 Genomes Browser:

rs1288715374

Molecular consequence:

• NM_001257374.3:c.792C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282624.2:c.885C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282625.2:c.1128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282626.2:c.1128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005572.4:c.1128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170707.4:c.1128C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170708.4:c.1128C>T - synonymous variant - [Sequence Ontology: SO:0001819]