ClinVar

NM_001261427.3(LPIN1):c.9+291G>A

Gene:

LPIN1:lipin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.1

Genomic location:

• Chr2: 11741719 (on Assembly GRCh38)
• Chr2: 11881845 (on Assembly GRCh37)

Preferred name:

NM_001261427.3(LPIN1):c.9+291G>A

HGVS:

• NC_000002.12:g.11741719G>A
• NG_012843.2:g.69141G>A
• NM_001261427.3:c.9+291G>A
• NM_001261428.3:c.139-23814G>A
• NM_001349207.2:c.82-23814G>A
• NM_001349208.2:c.139-23814G>A
• NC_000002.11:g.11881845G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs72773976

NCBI 1000 Genomes Browser:

rs72773976

Molecular consequence:

• NM_001261427.3:c.9+291G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001261428.3:c.139-23814G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349207.2:c.82-23814G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349208.2:c.139-23814G>A - intron variant - [Sequence Ontology: SO:0001627]