ClinVar

NM_004309.6(ARHGDIA):c.*243G>A

Gene:

ARHGDIA:Rho GDP dissociation inhibitor alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 81868633 (on Assembly GRCh38)
• Chr17: 79826509 (on Assembly GRCh37)

Preferred name:

NM_004309.6(ARHGDIA):c.*243G>A

HGVS:

• NC_000017.11:g.81868633C>T
• NG_034210.1:g.7774G>A
• NM_001185077.3:c.*243G>A
• NM_001185078.3:c.*243G>A
• NM_001301240.2:c.503-49G>A
• NM_001301241.2:c.503-49G>A
• NM_001301242.2:c.746G>A
• NM_001301243.2:c.*243G>A
• NM_004309.6:c.*243G>AMANE SELECT
• NP_001288171.1:p.Gly249Glu
• NC_000017.10:g.79826509C>T
• NM_001301242.1:c.746G>A
• NR_125441.2:n.848G>A
• p.G249E

This HGVS expression did not pass validation

Protein change:

G249E

Links:

dbSNP: rs189865523

NCBI 1000 Genomes Browser:

rs189865523

Molecular consequence:

• NM_001185077.3:c.*243G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001185078.3:c.*243G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001301243.2:c.*243G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_004309.6:c.*243G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001301240.2:c.503-49G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301241.2:c.503-49G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301242.2:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_125441.2:n.848G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]