ClinVar

NM_207305.5(FOXD4):c.1177T>G (p.Ser393Ala)

Gene:

FOXD4:forkhead box D4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p24.3

Genomic location:

• Chr9: 116943 (on Assembly GRCh38)
• Chr9: 116943 (on Assembly GRCh37)

Preferred name:

NM_207305.5(FOXD4):c.1177T>G (p.Ser393Ala)

HGVS:

• NC_000009.12:g.116943A>C
• NG_032165.1:g.6475T>G
• NG_115824.1:g.119A>C
• NM_207305.5:c.1177T>GMANE SELECT
• NP_997188.2:p.Ser393Ala
• NP_997188.2:p.Ser393Ala
• LRG_452t1:c.1177T>G
• LRG_452:g.6475T>G
• LRG_452p1:p.Ser393Ala
• NC_000009.11:g.116943A>C
• NM_207305.4:c.1177T>G

This HGVS expression did not pass validation

Protein change:

S393A

Molecular consequence:

• NM_207305.5:c.1177T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1