ClinVar

NM_032875.3(FBXL20):c.657C>G (p.His219Gln)

Gene:

FBXL20:F-box and leucine rich repeat protein 20 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 39281428 (on Assembly GRCh38)
• Chr17: 37437681 (on Assembly GRCh37)

Preferred name:

NM_032875.3(FBXL20):c.657C>G (p.His219Gln)

HGVS:

• NC_000017.11:g.39281428G>C
• NM_001184906.2:c.561C>G
• NM_001370208.3:c.663C>G
• NM_001370209.3:c.567C>G
• NM_032875.3:c.657C>GMANE SELECT
• NP_001171835.1:p.His187Gln
• NP_001357137.2:p.His221Gln
• NP_001357138.2:p.His189Gln
• NP_116264.2:p.His219Gln
• NC_000017.10:g.37437681G>C
• NM_032875.2:c.657C>G

This HGVS expression did not pass validation

Protein change:

H187Q

Molecular consequence:

• NM_001184906.2:c.561C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370208.3:c.663C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370209.3:c.567C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_032875.3:c.657C>G - missense variant - [Sequence Ontology: SO:0001583]