ClinVar

NM_001368397.1(FRMPD4):c.2161G>A (p.Asp721Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 12716620 (on Assembly GRCh38)
• ChrX: 12734739 (on Assembly GRCh37)

Preferred name:

NM_001368397.1(FRMPD4):c.2161G>A (p.Asp721Asn)

HGVS:

• NC_000023.11:g.12716620G>A
• NG_016419.3:g.899160G>A
• NM_001368395.3:c.2272G>A
• NM_001368396.3:c.2167G>A
• NM_001368397.1:c.2161G>AMANE SELECT
• NM_001368398.3:c.2272G>A
• NM_001368399.3:c.2152G>A
• NM_001368400.3:c.2041G>A
• NM_001368401.1:c.2137G>A
• NM_001368402.3:c.2137G>A
• NM_014728.3:c.2161G>A
• NP_001355324.1:p.Asp758Asn
• NP_001355325.1:p.Asp723Asn
• NP_001355326.1:p.Asp721Asn
• NP_001355327.1:p.Asp758Asn
• NP_001355328.1:p.Asp718Asn
• NP_001355329.1:p.Asp681Asn
• NP_001355330.1:p.Asp713Asn
• NP_001355331.1:p.Asp713Asn
• NP_055543.2:p.Asp721Asn
• NC_000023.10:g.12734739G>A

This HGVS expression did not pass validation

Protein change:

D681N

Links:

dbSNP: rs147167664

NCBI 1000 Genomes Browser:

rs147167664

Molecular consequence:

• NM_001368395.3:c.2272G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368396.3:c.2167G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368397.1:c.2161G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368398.3:c.2272G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368399.3:c.2152G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368400.3:c.2041G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368401.1:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368402.3:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014728.3:c.2161G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1