ClinVar

NM_170707.4(LMNA):c.1185G>A (p.Ser395=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156136241 (on Assembly GRCh38)
• Chr1: 156106032 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1185G>A (p.Ser395=)

HGVS:

• NC_000001.11:g.156136241G>A
• NG_008692.2:g.58669G>A
• NM_001257374.3:c.849G>A
• NM_001282624.2:c.942G>A
• NM_001282625.2:c.1185G>A
• NM_001282626.2:c.1185G>A
• NM_005572.4:c.1185G>A
• NM_170707.4:c.1185G>AMANE SELECT
• NM_170708.4:c.1185G>A
• NP_001244303.1:p.Ser283=
• NP_001269553.1:p.Ser314=
• NP_001269554.1:p.Ser395=
• NP_001269555.1:p.Ser395=
• NP_005563.1:p.Ser395=
• NP_733821.1:p.Ser395=
• NP_733822.1:p.Ser395=
• LRG_254t2:c.1185G>A
• LRG_254:g.58669G>A
• NC_000001.10:g.156106032G>A
• NM_170707.2:c.1185G>A
• c.1185G>A
• p.Ser395Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs397517890

NCBI 1000 Genomes Browser:

rs397517890

Molecular consequence:

• NM_001257374.3:c.849G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282624.2:c.942G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282625.2:c.1185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282626.2:c.1185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005572.4:c.1185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170707.4:c.1185G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170708.4:c.1185G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1