ClinVar

NM_001368397.1(FRMPD4):c.3863G>A (p.Arg1288Gln)

Gene:

FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 12718689 (on Assembly GRCh38)
• ChrX: 12736808 (on Assembly GRCh37)

Preferred name:

NM_001368397.1(FRMPD4):c.3863G>A (p.Arg1288Gln)

HGVS:

• NC_000023.11:g.12718689G>A
• NG_016419.3:g.901229G>A
• NM_001368395.3:c.3974G>A
• NM_001368396.3:c.3869G>A
• NM_001368397.1:c.3863G>AMANE SELECT
• NM_001368398.3:c.3974G>A
• NM_001368399.3:c.3854G>A
• NM_001368400.3:c.3743G>A
• NM_001368401.1:c.3839G>A
• NM_001368402.3:c.3839G>A
• NM_014728.3:c.3863G>A
• NP_001355324.1:p.Arg1325Gln
• NP_001355325.1:p.Arg1290Gln
• NP_001355326.1:p.Arg1288Gln
• NP_001355327.1:p.Arg1325Gln
• NP_001355328.1:p.Arg1285Gln
• NP_001355329.1:p.Arg1248Gln
• NP_001355330.1:p.Arg1280Gln
• NP_001355331.1:p.Arg1280Gln
• NP_055543.2:p.Arg1288Gln
• NC_000023.10:g.12736808G>A

This HGVS expression did not pass validation

Protein change:

R1248Q

Molecular consequence:

• NM_001368395.3:c.3974G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368396.3:c.3869G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368397.1:c.3863G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368398.3:c.3974G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368399.3:c.3854G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368400.3:c.3743G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368401.1:c.3839G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368402.3:c.3839G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014728.3:c.3863G>A - missense variant - [Sequence Ontology: SO:0001583]