ClinVar

NM_001144869.3(LIPT2):c.415C>T (p.Pro139Ser)

Gene:

LIPT2:lipoyl(octanoyl) transferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 74493289 (on Assembly GRCh38)
• Chr11: 74204334 (on Assembly GRCh37)

Preferred name:

NM_001144869.3(LIPT2):c.415C>T (p.Pro139Ser)

HGVS:

• NC_000011.10:g.74493289G>A
• NG_051333.1:g.5425C>T
• NM_001144869.1:c.415C>T
• NM_001144869.3:c.415C>TMANE SELECT
• NM_001329941.2:c.415C>T
• NM_001329942.2:c.237+178C>T
• NP_001138341.1:p.Pro139Ser
• NP_001316870.1:p.Pro139Ser
• LRG_1089t1:c.415C>T
• LRG_1089:g.5425C>T
• LRG_1089p1:p.Pro139Ser
• NC_000011.9:g.74204334G>A

This HGVS expression did not pass validation

Protein change:

P139S

Links:

dbSNP: rs925315842

NCBI 1000 Genomes Browser:

rs925315842

Molecular consequence:

• NM_001329942.2:c.237+178C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144869.3:c.415C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329941.2:c.415C>T - missense variant - [Sequence Ontology: SO:0001583]