ClinVar

NM_206937.2(LIG4):c.2485C>T (p.Leu829=)

Gene:

LIG4:DNA ligase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q33.3

Genomic location:

• Chr13: 108208784 (on Assembly GRCh38)
• Chr13: 108861132 (on Assembly GRCh37)

Preferred name:

NM_206937.2(LIG4):c.2485C>T (p.Leu829=)

HGVS:

• NC_000013.11:g.108208784G>A
• NG_007396.1:g.11751C>T
• NM_001098268.2:c.2485C>T
• NM_001330595.2:c.2284C>T
• NM_001352598.2:c.2485C>T
• NM_001352599.2:c.2485C>T
• NM_001352600.2:c.2485C>T
• NM_001352601.2:c.2485C>T
• NM_001352602.2:c.2485C>T
• NM_001352603.1:c.2485C>T
• NM_001352604.2:c.2521C>T
• NM_001379095.1:c.2485C>T
• NM_002312.3:c.2485C>T
• NM_206937.2:c.2485C>TMANE SELECT
• NP_001091738.1:p.Leu829=
• NP_001317524.1:p.Leu762=
• NP_001339527.1:p.Leu829=
• NP_001339528.1:p.Leu829=
• NP_001339529.1:p.Leu829=
• NP_001339530.1:p.Leu829=
• NP_001339531.1:p.Leu829=
• NP_001339532.1:p.Leu829=
• NP_001339533.1:p.Leu841=
• NP_001366024.1:p.Leu829=
• NP_002303.2:p.Leu829=
• NP_996820.1:p.Leu829=
• LRG_79t1:c.2485C>T
• LRG_79:g.11751C>T
• LRG_79p1:p.Leu829=
• NC_000013.10:g.108861132G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001098268.2:c.2485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330595.2:c.2284C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352598.2:c.2485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352599.2:c.2485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352600.2:c.2485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352601.2:c.2485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352602.2:c.2485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352603.1:c.2485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352604.2:c.2521C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379095.1:c.2485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002312.3:c.2485C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_206937.2:c.2485C>T - synonymous variant - [Sequence Ontology: SO:0001819]