ClinVar

NM_033163.5(FGF8):c.84G>T (p.Arg28Ser)

Gene:

FGF8:fibroblast growth factor 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.32

Genomic location:

• Chr10: 101775202 (on Assembly GRCh38)
• Chr10: 103534959 (on Assembly GRCh37)

Preferred name:

NM_033163.5(FGF8):c.84G>T (p.Arg28Ser)

HGVS:

• NC_000010.11:g.101775202C>A
• NG_007151.1:g.5869G>T
• NG_120486.1:g.283C>A
• NM_001206389.2:c.-123-323G>T
• NM_006119.6:c.70-290G>T
• NM_033163.3:c.84G>T
• NM_033163.5:c.84G>TMANE SELECT
• NM_033164.4:c.84G>T
• NM_033165.5:c.70-323G>T
• NP_149353.1:p.Arg28Ser
• NP_149354.1:p.Arg28Ser
• NC_000010.10:g.103534959C>A

This HGVS expression did not pass validation

Protein change:

R28S

Molecular consequence:

• NM_001206389.2:c.-123-323G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006119.6:c.70-290G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_033165.5:c.70-323G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_033163.5:c.84G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033164.4:c.84G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1