ClinVar

NM_006266.4(RALGDS):c.715C>T (p.Arg239Cys)

Gene:

RALGDS:ral guanine nucleotide dissociation stimulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.2

Genomic location:

• Chr9: 133108736 (on Assembly GRCh38)
• Chr9: 135984123 (on Assembly GRCh37)

Preferred name:

NM_006266.4(RALGDS):c.715C>T (p.Arg239Cys)

HGVS:

• NC_000009.12:g.133108736G>A
• NM_001042368.3:c.550C>T
• NM_001271774.2:c.628C>T
• NM_001271775.2:c.712C>T
• NM_001271776.2:c.679C>T
• NM_006266.4:c.715C>TMANE SELECT
• NP_001035827.1:p.Arg184Cys
• NP_001258703.1:p.Arg210Cys
• NP_001258704.1:p.Arg238Cys
• NP_001258705.1:p.Arg227Cys
• NP_006257.1:p.Arg239Cys
• NC_000009.11:g.135984123G>A

This HGVS expression did not pass validation

Protein change:

R184C

Molecular consequence:

• NM_001042368.3:c.550C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271774.2:c.628C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271775.2:c.712C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271776.2:c.679C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006266.4:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1