ClinVar

NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156134851 (on Assembly GRCh38)
• Chr1: 156104642 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)

HGVS:

• NC_000001.11:g.156134851T>C
• NG_008692.2:g.57279T>C
• NM_001257374.3:c.350T>C
• NM_001282624.2:c.443T>C
• NM_001282625.2:c.686T>C
• NM_001282626.2:c.686T>C
• NM_005572.4:c.686T>C
• NM_170707.4:c.686T>CMANE SELECT
• NM_170708.4:c.686T>C
• NP_001244303.1:p.Ile117Thr
• NP_001269553.1:p.Ile148Thr
• NP_001269554.1:p.Ile229Thr
• NP_001269555.1:p.Ile229Thr
• NP_005563.1:p.Ile229Thr
• NP_733821.1:p.Ile229Thr
• NP_733822.1:p.Ile229Thr
• LRG_254t2:c.686T>C
• LRG_254:g.57279T>C
• NC_000001.10:g.156104642T>C
• NM_170707.2:c.686T>C
• NM_170707.3:c.686T>C

This HGVS expression did not pass validation

Protein change:

I117T

Links:

dbSNP: rs727505357

NCBI 1000 Genomes Browser:

rs727505357

Molecular consequence:

• NM_001257374.3:c.350T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282624.2:c.443T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282625.2:c.686T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282626.2:c.686T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005572.4:c.686T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_170707.4:c.686T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_170708.4:c.686T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1