ClinVar

NM_013975.4(LIG3):c.2316C>T (p.Ile772=)

Gene:

LIG3:DNA ligase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 34999841 (on Assembly GRCh38)
• Chr17: 33326860 (on Assembly GRCh37)

Preferred name:

NM_013975.4(LIG3):c.2316C>T (p.Ile772=)

HGVS:

• NC_000017.11:g.34999841C>T
• NG_029221.1:g.24344C>T
• NM_002311.5:c.2316C>T
• NM_013975.4:c.2316C>TMANE SELECT
• NP_002302.2:p.Ile772=
• NP_039269.2:p.Ile772=
• NC_000017.10:g.33326860C>T
• NM_013975.3:c.2316C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs775019742

NCBI 1000 Genomes Browser:

rs775019742

Molecular consequence:

• NM_002311.5:c.2316C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013975.4:c.2316C>T - synonymous variant - [Sequence Ontology: SO:0001819]