ClinVar

NM_020631.6(PLEKHG5):c.560C>T (p.Ala187Val)

Gene:

PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

• Chr1: 6474044 (on Assembly GRCh38)
• Chr1: 6534104 (on Assembly GRCh37)

Preferred name:

NM_020631.6(PLEKHG5):c.560C>T (p.Ala187Val)

HGVS:

• NC_000001.11:g.6474044G>A
• NG_007978.1:g.50966C>T
• NM_001042663.3:c.671C>T
• NM_001042664.2:c.560C>T
• NM_001042665.2:c.560C>T
• NM_001265592.2:c.671C>T
• NM_001265593.2:c.767C>T
• NM_001265594.3:c.560C>T
• NM_020631.6:c.560C>TMANE SELECT
• NM_198681.4:c.560C>T
• NP_001036128.2:p.Ala224Val
• NP_001036129.1:p.Ala187Val
• NP_001036129.1:p.Ala187Val
• NP_001036130.1:p.Ala187Val
• NP_001036130.1:p.Ala187Val
• NP_001252521.2:p.Ala224Val
• NP_001252522.1:p.Ala256Val
• NP_001252522.1:p.Ala256Val
• NP_001252523.1:p.Ala187Val
• NP_001252523.1:p.Ala187Val
• NP_065682.2:p.Ala187Val
• NP_065682.2:p.Ala187Val
• NP_941374.3:p.Ala187Val
• LRG_262t1:c.560C>T
• LRG_262:g.50966C>T
• LRG_262p1:p.Ala187Val
• NC_000001.10:g.6534104G>A
• NM_001042664.1:c.560C>T
• NM_001042665.1:c.560C>T
• NM_001265593.1:c.767C>T
• NM_001265594.2:c.560C>T
• NM_020631.3:c.560C>T

This HGVS expression did not pass validation

Protein change:

A187V

Molecular consequence:

• NM_001042663.3:c.671C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042664.2:c.560C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042665.2:c.560C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001265592.2:c.671C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001265593.2:c.767C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001265594.3:c.560C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020631.6:c.560C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198681.4:c.560C>T - missense variant - [Sequence Ontology: SO:0001583]