ClinVar

NM_001136472.2(LITAF):c.*138G>C

Gene:

LITAF:lipopolysaccharide induced TNF factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

• Chr16: 11549499 (on Assembly GRCh38)
• Chr16: 11643355 (on Assembly GRCh37)

Preferred name:

NM_001136472.2(LITAF):c.*138G>C

HGVS:

• NC_000016.10:g.11549499C>G
• NG_009008.1:g.42452G>C
• NM_001136472.2:c.*138G>CMANE SELECT
• NM_001136473.1:c.*263G>C
• NM_004862.4:c.*138G>C
• LRG_253t1:c.*263G>C
• LRG_253:g.42452G>C
• NC_000016.9:g.11643355C>G
• NM_001136472.1:c.*138G>C
• NR_024320.2:n.758G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs898867952

NCBI 1000 Genomes Browser:

rs898867952

Molecular consequence:

• NM_001136472.2:c.*138G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001136473.1:c.*263G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_004862.4:c.*138G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_024320.2:n.758G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]