ClinVar

NM_170707.4(LMNA):c.1968+8G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 156138765 (on Assembly GRCh38)
• Chr1: 156108556 (on Assembly GRCh37)

Preferred name:

NM_170707.4(LMNA):c.1968+8G>T

HGVS:

• NC_000001.11:g.156138765G>T
• NG_008692.2:g.61193G>T
• NM_001257374.3:c.1632+8G>T
• NM_001282626.2:c.1818+158G>T
• NM_170707.4:c.1968+8G>TMANE SELECT
• NM_170708.4:c.1878+8G>T
• LRG_254t2:c.1968+8G>T
• LRG_254:g.61193G>T
• NC_000001.10:g.156108556G>T
• NM_170707.2:c.1968+8G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1651883222

NCBI 1000 Genomes Browser:

rs1651883222

Molecular consequence:

• NM_001257374.3:c.1632+8G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282626.2:c.1818+158G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_170707.4:c.1968+8G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_170708.4:c.1878+8G>T - intron variant - [Sequence Ontology: SO:0001627]