ClinVar

NM_170707.4(LMNA):c.1824C>T (p.Gly608=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156138613 (on Assembly GRCh38)
• Chr1: 156108404 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1824C>T (p.Gly608=)

Other names:

G608G

HGVS:

• NC_000001.11:g.156138613C>T
• NG_008692.2:g.61041C>T
• NM_001257374.3:c.1488C>T
• NM_001282626.2:c.1818+6C>T
• NM_170707.4:c.1824C>TMANE SELECT
• NM_170708.4:c.1734C>T
• NP_001244303.1:p.Gly496=
• NP_733821.1:p.Gly608=
• NP_733822.1:p.Gly578=
• LRG_254t2:c.1824C>T
• LRG_254:g.61041C>T
• LRG_254p2:p.Gly608Gly
• NC_000001.10:g.156108404C>T
• NM_170707.2:c.1824C>T
• NM_170707.3:c.1824C>T
• NP_733821.1:p.(=)
• NP_733821.1:p.Gly608Gly

This HGVS expression did not pass validation

Protein change:

GLY608GLY

Links:

OMIM: 150330.0022; dbSNP: rs58596362

NCBI 1000 Genomes Browser:

rs58596362

Molecular consequence:

• NM_001282626.2:c.1818+6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001257374.3:c.1488C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170707.4:c.1824C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170708.4:c.1734C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1