ClinVar

NM_001012426.2(FOXP4):c.1246G>A (p.Ala416Thr)

Gene:

FOXP4:forkhead box P4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 41590059 (on Assembly GRCh38)
• Chr6: 41557797 (on Assembly GRCh37)

Preferred name:

NM_001012426.2(FOXP4):c.1246G>A (p.Ala416Thr)

HGVS:

• NC_000006.12:g.41590059G>A
• NM_001012426.2:c.1246G>AMANE SELECT
• NM_001012427.2:c.1240G>A
• NM_001405824.1:c.1210G>A
• NM_001405825.1:c.1150G>A
• NM_001405826.1:c.1114G>A
• NM_138457.3:c.1207G>A
• NP_001012426.1:p.Ala416Thr
• NP_001012427.1:p.Ala414Thr
• NP_001392753.1:p.Ala404Thr
• NP_001392754.1:p.Ala384Thr
• NP_001392755.1:p.Ala372Thr
• NP_612466.1:p.Ala403Thr
• NC_000006.11:g.41557797G>A
• NM_001012426.1:c.1246G>A

This HGVS expression did not pass validation

Protein change:

A372T

Molecular consequence:

• NM_001012426.2:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001012427.2:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001405824.1:c.1210G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001405825.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001405826.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_138457.3:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]