ClinVar

NM_170707.4(LMNA):c.639+9T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156134537 (on Assembly GRCh38)
• Chr1: 156104328 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.639+9T>C

HGVS:

• NC_000001.11:g.156134537T>C
• NG_008692.2:g.56965T>C
• NM_001257374.3:c.303+9T>C
• NM_001282624.2:c.396+9T>C
• NM_001282625.2:c.639+9T>C
• NM_001282626.2:c.639+9T>C
• NM_005572.4:c.639+9T>C
• NM_170707.4:c.639+9T>CMANE SELECT
• NM_170708.4:c.639+9T>C
• LRG_254t1:c.639+9T>C
• LRG_254:g.56965T>C
• NC_000001.10:g.156104328T>C
• NM_005572.3:c.639+9T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs745768694

NCBI 1000 Genomes Browser:

rs745768694

Molecular consequence:

• NM_001257374.3:c.303+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282624.2:c.396+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282625.2:c.639+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282626.2:c.639+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_005572.4:c.639+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_170707.4:c.639+9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_170708.4:c.639+9T>C - intron variant - [Sequence Ontology: SO:0001627]