ClinVar

NM_170707.4(LMNA):c.1071C>T (p.Asp357=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156136035 (on Assembly GRCh38)
• Chr1: 156105826 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1071C>T (p.Asp357=)

HGVS:

• NC_000001.11:g.156136035C>T
• NG_008692.2:g.58463C>T
• NM_001257374.3:c.735C>T
• NM_001282624.2:c.828C>T
• NM_001282625.2:c.1071C>T
• NM_001282626.2:c.1071C>T
• NM_005572.4:c.1071C>T
• NM_170707.4:c.1071C>TMANE SELECT
• NM_170708.4:c.1071C>T
• NP_001244303.1:p.Asp245=
• NP_001269553.1:p.Asp276=
• NP_001269554.1:p.Asp357=
• NP_001269555.1:p.Asp357=
• NP_005563.1:p.Asp357=
• NP_733821.1:p.Asp357=
• NP_733822.1:p.Asp357=
• LRG_254t2:c.1071C>T
• LRG_254:g.58463C>T
• NC_000001.10:g.156105826C>T
• NM_170707.2:c.1071C>T
• NM_170707.3:c.1071C>T
• p.Asp357Asp

This HGVS expression did not pass validation

Links:

dbSNP: rs376875762

NCBI 1000 Genomes Browser:

rs376875762

Molecular consequence:

• NM_001257374.3:c.735C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282624.2:c.828C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282625.2:c.1071C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282626.2:c.1071C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005572.4:c.1071C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170707.4:c.1071C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170708.4:c.1071C>T - synonymous variant - [Sequence Ontology: SO:0001819]