ClinVar

NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p13

Genomic location:

• Chr3: 70977852 - 70977855 (on Assembly GRCh38)
• Chr3: 71027003 - 71027006 (on Assembly GRCh37)

Preferred name:

NM_001349338.3(FOXP1):c.1321_1324del (p.Asp441fs)

HGVS:

• NC_000003.12:g.70977854_70977857del
• NG_028243.1:g.611135_611138del
• NM_001244808.3:c.1321_1324del
• NM_001244810.2:c.1321_1324del
• NM_001244812.3:c.1093_1096del
• NM_001244813.3:c.1021_1024del
• NM_001244814.3:c.1321_1324del
• NM_001244815.2:c.1021_1024del
• NM_001244816.2:c.1321_1324del
• NM_001349337.2:c.1018_1021del
• NM_001349338.3:c.1321_1324delMANE SELECT
• NM_001349340.3:c.1321_1324del
• NM_001349341.3:c.1318_1321del
• NM_001349342.3:c.1021_1024del
• NM_001349343.3:c.1018_1021del
• NM_001349344.3:c.1018_1021del
• NM_001370548.1:c.1021_1024del
• NM_032682.6:c.1321_1324del
• NP_001231737.1:p.Asp441fs
• NP_001231739.1:p.Asp441fs
• NP_001231741.1:p.Asp365fs
• NP_001231742.1:p.Asp341fs
• NP_001231743.1:p.Asp441fs
• NP_001231744.2:p.Asp341fs
• NP_001231745.1:p.Asp441fs
• NP_001336266.2:p.Asp340fs
• NP_001336267.1:p.Asp441fs
• NP_001336269.1:p.Asp441fs
• NP_001336270.1:p.Asp440fs
• NP_001336271.1:p.Asp341fs
• NP_001336272.1:p.Asp340fs
• NP_001336273.1:p.Asp340fs
• NP_001357477.1:p.Asp341fs
• NP_116071.2:p.Asp441fs
• NC_000003.11:g.71027003_71027006del
• NC_000003.11:g.71027005_71027008del
• NM_001349338.1:c.1321_1324delGACA
• NR_146142.3:n.1837_1840del
• NR_146143.3:n.1834_1837del

This HGVS expression did not pass validation

Protein change:

D340fs

Links:

Molecular consequence:

• NM_001244808.3:c.1321_1324del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001244810.2:c.1321_1324del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001244812.3:c.1093_1096del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001244813.3:c.1021_1024del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001244814.3:c.1321_1324del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001244815.2:c.1021_1024del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001244816.2:c.1321_1324del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001349337.2:c.1018_1021del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001349338.3:c.1321_1324del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001349340.3:c.1321_1324del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001349341.3:c.1318_1321del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001349342.3:c.1021_1024del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001349343.3:c.1018_1021del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001349344.3:c.1018_1021del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001370548.1:c.1021_1024del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_032682.6:c.1321_1324del - frameshift variant - [Sequence Ontology: SO:0001589]
• NR_146142.3:n.1837_1840del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146143.3:n.1834_1837del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1