ClinVar

NM_001144869.3(LIPT2):c.1A>T (p.Met1Leu)

Genes:

LIPT2-AS1:LIPT2 antisense RNA 1 [Gene - HGNC]
LIPT2:lipoyl(octanoyl) transferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 74493703 (on Assembly GRCh38)
• Chr11: 74204748 (on Assembly GRCh37)

Preferred name:

NM_001144869.3(LIPT2):c.1A>T (p.Met1Leu)

HGVS:

• NC_000011.10:g.74493703T>A
• NG_051333.1:g.5011A>T
• NM_001144869.3:c.1A>TMANE SELECT
• NM_001329941.2:c.1A>T
• NM_001329942.2:c.1A>T
• NP_001138341.1:p.Met1Leu
• NP_001316870.1:p.Met1Leu
• NP_001316871.1:p.Met1Leu
• LRG_1089t1:c.1A>T
• LRG_1089:g.5011A>T
• LRG_1089p1:p.Met1Leu
• NC_000011.9:g.74204748T>A
• NR_171028.1:n.324T>A

This HGVS expression did not pass validation

Protein change:

M1L

Molecular consequence:

• NM_001144869.3:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001329941.2:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001329942.2:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001144869.3:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329941.2:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329942.2:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_171028.1:n.324T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1