ClinVar

NM_001278716.2(FBXL4):c.1607A>C (p.Gln536Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q16.1

Genomic location:

• Chr6: 98875510 (on Assembly GRCh38)
• Chr6: 99323386 (on Assembly GRCh37)

Preferred name:

NM_001278716.2(FBXL4):c.1607A>C (p.Gln536Pro)

HGVS:

• NC_000006.12:g.98875510T>G
• NG_033903.1:g.77497A>C
• NM_001278716.2:c.1607A>CMANE SELECT
• NM_012160.5:c.1607A>C
• NP_001265645.1:p.Gln536Pro
• NP_036292.2:p.Gln536Pro
• NC_000006.11:g.99323386T>G
• NM_001278716.1:c.1607A>C
• NR_103836.2:n.1592A>C

This HGVS expression did not pass validation

Protein change:

Q536P

Links:

dbSNP: rs1554215998

NCBI 1000 Genomes Browser:

rs1554215998

Molecular consequence:

• NM_001278716.2:c.1607A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_012160.5:c.1607A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_103836.2:n.1592A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]