ClinVar

NM_170707.4(LMNA):c.1146C>T (p.Gly382=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156136110 (on Assembly GRCh38)
• Chr1: 156105901 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1146C>T (p.Gly382=)

Other names:

p.G382G:GGC>GGT

HGVS:

• NC_000001.11:g.156136110C>T
• NG_008692.2:g.58538C>T
• NM_001257374.3:c.810C>T
• NM_001282624.2:c.903C>T
• NM_001282625.2:c.1146C>T
• NM_001282626.2:c.1146C>T
• NM_005572.4:c.1146C>T
• NM_170707.4:c.1146C>TMANE SELECT
• NM_170708.4:c.1146C>T
• NP_001244303.1:p.Gly270=
• NP_001269553.1:p.Gly301=
• NP_001269554.1:p.Gly382=
• NP_001269555.1:p.Gly382=
• NP_005563.1:p.Gly382=
• NP_733821.1:p.Gly382=
• NP_733822.1:p.Gly382=
• LRG_254t2:c.1146C>T
• LRG_254:g.58538C>T
• NC_000001.10:g.156105901C>T
• NM_170707.2:c.1146C>T
• NM_170707.3:c.1146C>T
• c.1146C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs57508089

NCBI 1000 Genomes Browser:

rs57508089

Molecular consequence:

• NM_001257374.3:c.810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282624.2:c.903C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282625.2:c.1146C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282626.2:c.1146C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005572.4:c.1146C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170707.4:c.1146C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170708.4:c.1146C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1