ClinVar

NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

• Chr1: 6468242 (on Assembly GRCh38)
• Chr1: 6528302 (on Assembly GRCh37)

Preferred name:

NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)

HGVS:

• NC_000001.11:g.6468242T>C
• NG_007978.1:g.56768A>G
• NG_029910.1:g.2954A>G
• NM_001042663.3:c.2705A>G
• NM_001042664.1:c.2594A>G
• NM_001042665.1:c.2594A>G
• NM_001265592.2:c.2705A>G
• NM_001265593.1:c.2801A>G
• NM_001265594.2:c.2594A>G
• NM_020631.6:c.2594A>GMANE SELECT
• NM_198681.4:c.2594A>G
• NP_001036128.2:p.Gln902Arg
• NP_001036129.1:p.Gln865Arg
• NP_001036130.1:p.Gln865Arg
• NP_001252521.2:p.Gln902Arg
• NP_001252522.1:p.Gln934Arg
• NP_001252523.1:p.Gln865Arg
• NP_065682.2:p.Gln865Arg
• NP_941374.3:p.Gln865Arg
• LRG_262:g.56768A>G
• NC_000001.10:g.6528302T>C
• NM_020631.4:c.2594A>G

This HGVS expression did not pass validation

Protein change:

Q865R

Links:

dbSNP: rs3007419

NCBI 1000 Genomes Browser:

rs3007419

Molecular consequence:

• NM_001042663.3:c.2705A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042664.1:c.2594A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042665.1:c.2594A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001265592.2:c.2705A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001265593.1:c.2801A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001265594.2:c.2594A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_020631.6:c.2594A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_198681.4:c.2594A>G - missense variant - [Sequence Ontology: SO:0001583]