ClinVar

NM_001177693.2(ARHGEF28):c.963+298G>A

Gene:

ARHGEF28:Rho guanine nucleotide exchange factor 28 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

• Chr5: 73794752 (on Assembly GRCh38)
• Chr5: 73090577 (on Assembly GRCh37)

Preferred name:

NM_001177693.2(ARHGEF28):c.963+298G>A

HGVS:

• NC_000005.10:g.73794752G>A
• NG_017198.2:g.173595G>A
• NM_001080479.3:c.963+298G>A
• NM_001177693.2:c.963+298G>AMANE SELECT
• NM_001388076.1:c.669+298G>A
• NM_001388078.1:c.963+298G>A
• NC_000005.9:g.73090577G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs12517473

NCBI 1000 Genomes Browser:

rs12517473

Molecular consequence:

• NM_001080479.3:c.963+298G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177693.2:c.963+298G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001388076.1:c.669+298G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001388078.1:c.963+298G>A - intron variant - [Sequence Ontology: SO:0001627]