ClinVar

NM_170707.4(LMNA):c.866A>C (p.His289Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156135242 (on Assembly GRCh38)
• Chr1: 156105033 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.866A>C (p.His289Pro)

HGVS:

• NC_000001.11:g.156135242A>C
• NG_008692.2:g.57670A>C
• NM_001257374.3:c.530A>C
• NM_001282624.2:c.623A>C
• NM_001282625.2:c.866A>C
• NM_001282626.2:c.866A>C
• NM_005572.4:c.866A>C
• NM_170707.4:c.866A>CMANE SELECT
• NM_170708.4:c.866A>C
• NP_001244303.1:p.His177Pro
• NP_001269553.1:p.His208Pro
• NP_001269554.1:p.His289Pro
• NP_001269555.1:p.His289Pro
• NP_005563.1:p.His289Pro
• NP_733821.1:p.His289Pro
• NP_733822.1:p.His289Pro
• LRG_254:g.57670A>C
• NC_000001.10:g.156105033A>C
• NM_170707.3:c.866A>C

This HGVS expression did not pass validation

Protein change:

H177P

Links:

dbSNP: rs1558130062

NCBI 1000 Genomes Browser:

rs1558130062

Molecular consequence:

• NM_001257374.3:c.530A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282624.2:c.623A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282625.2:c.866A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282626.2:c.866A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005572.4:c.866A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_170707.4:c.866A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_170708.4:c.866A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1