ClinVar

NM_001136472.2(LITAF):c.330C>T (p.Asn110=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

• Chr16: 11553580 (on Assembly GRCh38)
• Chr16: 11647436 (on Assembly GRCh37)

Preferred name:

NM_001136472.2(LITAF):c.330C>T (p.Asn110=)

HGVS:

• NC_000016.10:g.11553580G>A
• NG_009008.1:g.38371C>T
• NM_001136472.2:c.330C>TMANE SELECT
• NM_001136473.1:c.330C>T
• NM_004862.4:c.330C>T
• NP_001129944.1:p.Asn110=
• NP_001129945.1:p.Asn110=
• NP_004853.2:p.Asn110=
• NP_004853.2:p.Asn110=
• LRG_253t1:c.330C>T
• LRG_253:g.38371C>T
• LRG_253p1:p.Asn110=
• NC_000016.9:g.11647436G>A
• NM_004862.3:c.330C>T
• NR_024320.2:n.464C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs139116481

NCBI 1000 Genomes Browser:

rs139116481

Molecular consequence:

• NR_024320.2:n.464C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001136472.2:c.330C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136473.1:c.330C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004862.4:c.330C>T - synonymous variant - [Sequence Ontology: SO:0001819]