ClinVar

NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156138560 (on Assembly GRCh38)
• Chr1: 156108351 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser)

HGVS:

• NC_000001.11:g.156138560T>A
• NG_008692.2:g.60988T>A
• NM_001257374.3:c.1435T>A
• NM_001282626.2:c.1771T>A
• NM_170707.4:c.1771T>AMANE SELECT
• NM_170708.4:c.1681T>A
• NP_001244303.1:p.Cys479Ser
• NP_001269555.1:p.Cys591Ser
• NP_733821.1:p.Cys591Ser
• NP_733822.1:p.Cys561Ser
• LRG_254t2:c.1771T>A
• LRG_254:g.60988T>A
• LRG_254p2:p.Cys591Ser
• NC_000001.10:g.156108351T>A
• NM_170707.2:c.1771T>A

This HGVS expression did not pass validation

Protein change:

C479S

Links:

dbSNP: rs797044486

NCBI 1000 Genomes Browser:

rs797044486

Molecular consequence:

• NM_001257374.3:c.1435T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282626.2:c.1771T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_170707.4:c.1771T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_170708.4:c.1681T>A - missense variant - [Sequence Ontology: SO:0001583]