ClinVar

NM_170707.4(LMNA):c.1773C>T (p.Cys591=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156138562 (on Assembly GRCh38)
• Chr1: 156108353 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1773C>T (p.Cys591=)

HGVS:

• NC_000001.11:g.156138562C>T
• NG_008692.2:g.60990C>T
• NM_001257374.3:c.1437C>T
• NM_001282626.2:c.1773C>T
• NM_170707.4:c.1773C>TMANE SELECT
• NM_170708.4:c.1683C>T
• NP_001244303.1:p.Cys479=
• NP_001269555.1:p.Cys591=
• NP_733821.1:p.Cys591=
• NP_733822.1:p.Cys561=
• LRG_254t2:c.1773C>T
• LRG_254:g.60990C>T
• NC_000001.10:g.156108353C>T
• NM_170707.2:c.1773C>T
• NM_170707.3:c.1773C>T
• c.1773C>T
• p.Cys591Cys

This HGVS expression did not pass validation

Links:

dbSNP: rs397517897

NCBI 1000 Genomes Browser:

rs397517897

Molecular consequence:

• NM_001257374.3:c.1437C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282626.2:c.1773C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170707.4:c.1773C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170708.4:c.1683C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2