ClinVar

NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

• Chr16: 11549720 (on Assembly GRCh38)
• Chr16: 11643576 (on Assembly GRCh37)

Preferred name:

NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)

HGVS:

• NC_000016.10:g.11549720G>T
• NG_009008.1:g.42231C>A
• NM_001136472.2:c.403C>AMANE SELECT
• NM_001136473.1:c.*42C>A
• NM_004862.4:c.403C>A
• NP_001129944.1:p.Pro135Thr
• NP_004853.2:p.Pro135Thr
• NP_004853.2:p.Pro135Thr
• LRG_253t1:c.*42C>A
• LRG_253:g.42231C>A
• NC_000016.9:g.11643576G>T
• NM_004862.3:c.403C>A
• NR_024320.2:n.537C>A

This HGVS expression did not pass validation

Protein change:

P135T

Links:

dbSNP: rs281865135

NCBI 1000 Genomes Browser:

rs281865135

Molecular consequence:

• NM_001136473.1:c.*42C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001136472.2:c.403C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004862.4:c.403C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_024320.2:n.537C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]