ClinVar

NM_001278716.2(FBXL4):c.332C>T (p.Ser111Phe)

Gene:

FBXL4:F-box and leucine rich repeat protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q16.2

Genomic location:

• Chr6: 98926657 (on Assembly GRCh38)
• Chr6: 99374533 (on Assembly GRCh37)

Preferred name:

NM_001278716.2(FBXL4):c.332C>T (p.Ser111Phe)

HGVS:

• NC_000006.12:g.98926657G>A
• NG_033903.1:g.26350C>T
• NM_001278716.2:c.332C>TMANE SELECT
• NM_012160.3:c.332C>T
• NM_012160.5:c.332C>T
• NP_001265645.1:p.Ser111Phe
• NP_036292.2:p.Ser111Phe
• NP_036292.2:p.Ser111Phe
• NC_000006.11:g.99374533G>A
• NM_012160.4:c.332C>T
• NR_103836.2:n.663C>T
• NR_103837.2:n.663C>T

This HGVS expression did not pass validation

Protein change:

S111F

Links:

dbSNP: rs368243492

NCBI 1000 Genomes Browser:

rs368243492

Molecular consequence:

• NM_001278716.2:c.332C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012160.5:c.332C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_103836.2:n.663C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_103837.2:n.663C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]