ClinVar

NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

• Chr1: 6468202 (on Assembly GRCh38)
• Chr1: 6528262 (on Assembly GRCh37)

Preferred name:

NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=)

HGVS:

• NC_000001.11:g.6468202G>A
• NG_007978.1:g.56808C>T
• NG_029910.1:g.2994C>T
• NM_001042663.3:c.2745C>T
• NM_001042664.2:c.2634C>T
• NM_001042665.2:c.2634C>T
• NM_001265592.2:c.2745C>T
• NM_001265593.2:c.2841C>T
• NM_001265594.3:c.2634C>T
• NM_020631.6:c.2634C>TMANE SELECT
• NM_198681.4:c.2634C>T
• NP_001036128.2:p.Ser915=
• NP_001036129.1:p.Ser878=
• NP_001036130.1:p.Ser878=
• NP_001252521.2:p.Ser915=
• NP_001252522.1:p.Ser947=
• NP_001252523.1:p.Ser878=
• NP_065682.2:p.Ser878=
• NP_065682.2:p.Ser878=
• NP_941374.3:p.Ser878=
• LRG_262t1:c.2634C>T
• LRG_262:g.56808C>T
• LRG_262p1:p.Ser878=
• NC_000001.10:g.6528262G>A
• NM_020631.3:c.2634C>T
• NM_020631.4:c.2634C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs367560509

NCBI 1000 Genomes Browser:

rs367560509

Molecular consequence:

• NM_001042663.3:c.2745C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042664.2:c.2634C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042665.2:c.2634C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001265592.2:c.2745C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001265593.2:c.2841C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001265594.3:c.2634C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020631.6:c.2634C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198681.4:c.2634C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2