ClinVar

NM_001368397.1(FRMPD4):c.50C>T (p.Thr17Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 12498688 (on Assembly GRCh38)
• ChrX: 12516807 (on Assembly GRCh37)

Preferred name:

NM_001368397.1(FRMPD4):c.50C>T (p.Thr17Met)

HGVS:

• NC_000023.11:g.12498688C>T
• NG_016419.3:g.681228C>T
• NM_001368395.3:c.161C>T
• NM_001368396.3:c.50C>T
• NM_001368397.1:c.50C>TMANE SELECT
• NM_001368398.3:c.161C>T
• NM_001368399.3:c.41C>T
• NM_001368400.3:c.-71C>T
• NM_001368401.1:c.26C>T
• NM_001368402.3:c.26C>T
• NM_014728.3:c.50C>T
• NP_001355324.1:p.Thr54Met
• NP_001355325.1:p.Thr17Met
• NP_001355326.1:p.Thr17Met
• NP_001355327.1:p.Thr54Met
• NP_001355328.1:p.Thr14Met
• NP_001355330.1:p.Thr9Met
• NP_001355331.1:p.Thr9Met
• NP_055543.2:p.Thr17Met
• NC_000023.10:g.12516807C>T

This HGVS expression did not pass validation

Protein change:

T14M

Molecular consequence:

• NM_001368400.3:c.-71C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001368395.3:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368396.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368397.1:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368398.3:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368399.3:c.41C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368401.1:c.26C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368402.3:c.26C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014728.3:c.50C>T - missense variant - [Sequence Ontology: SO:0001583]