ClinVar

NM_001029860.4(FBXO43):c.1709G>A (p.Arg570Gln)

Gene:

FBXO43:F-box protein 43 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.2

Genomic location:

• Chr8: 100134330 (on Assembly GRCh38)
• Chr8: 101146558 (on Assembly GRCh37)

Preferred name:

NM_001029860.4(FBXO43):c.1709G>A (p.Arg570Gln)

HGVS:

• NC_000008.11:g.100134330C>T
• NM_001029860.4:c.1709G>AMANE SELECT
• NP_001025031.2:p.Arg570Gln
• NC_000008.10:g.101146558C>T
• NR_036491.2:n.2435G>A

This HGVS expression did not pass validation

Protein change:

R570Q

Molecular consequence:

• NM_001029860.4:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_036491.2:n.2435G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1