ClinVar

NM_001349338.3(FOXP1):c.1675A>T (p.Met559Leu)

Gene:

FOXP1:forkhead box P1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p13

Genomic location:

• Chr3: 70970783 (on Assembly GRCh38)
• Chr3: 71019934 (on Assembly GRCh37)

Preferred name:

NM_001349338.3(FOXP1):c.1675A>T (p.Met559Leu)

HGVS:

• NC_000003.12:g.70970783T>A
• NG_028243.1:g.618207A>T
• NM_001244808.3:c.1672A>T
• NM_001244810.2:c.1723A>T
• NM_001244812.3:c.1447A>T
• NM_001244813.3:c.1375A>T
• NM_001244814.3:c.1675A>T
• NM_001244815.2:c.1375A>T
• NM_001244816.2:c.1675A>T
• NM_001349337.2:c.1372A>T
• NM_001349338.3:c.1675A>TMANE SELECT
• NM_001349340.3:c.1675A>T
• NM_001349341.3:c.1672A>T
• NM_001349342.3:c.1375A>T
• NM_001349343.3:c.1372A>T
• NM_001349344.3:c.1372A>T
• NM_001370548.1:c.1372A>T
• NM_032682.6:c.1675A>T
• NP_001231737.1:p.Met558Leu
• NP_001231739.1:p.Met575Leu
• NP_001231741.1:p.Met483Leu
• NP_001231742.1:p.Met459Leu
• NP_001231743.1:p.Met559Leu
• NP_001231744.2:p.Met459Leu
• NP_001231745.1:p.Met559Leu
• NP_001336266.2:p.Met458Leu
• NP_001336267.1:p.Met559Leu
• NP_001336269.1:p.Met559Leu
• NP_001336270.1:p.Met558Leu
• NP_001336271.1:p.Met459Leu
• NP_001336272.1:p.Met458Leu
• NP_001336273.1:p.Met458Leu
• NP_001357477.1:p.Met458Leu
• NP_116071.2:p.Met559Leu
• NC_000003.11:g.71019934T>A
• NR_146142.3:n.2191A>T
• NR_146143.3:n.2188A>T

This HGVS expression did not pass validation

Protein change:

M458L

Links:

dbSNP: rs764023352

NCBI 1000 Genomes Browser:

rs764023352

Molecular consequence:

• NM_001244808.3:c.1672A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001244810.2:c.1723A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001244812.3:c.1447A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001244813.3:c.1375A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001244814.3:c.1675A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001244815.2:c.1375A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001244816.2:c.1675A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349337.2:c.1372A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349338.3:c.1675A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349340.3:c.1675A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349341.3:c.1672A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349342.3:c.1375A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349343.3:c.1372A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349344.3:c.1372A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370548.1:c.1372A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032682.6:c.1675A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_146142.3:n.2191A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146143.3:n.2188A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2