ClinVar

NM_001017979.3(RAB28):c.51G>T (p.Val17=)

Genes:

RAB28:RAB28, member RAS oncogene family [Gene - OMIM - HGNC]
LOC111828517:Sharpr-MPRA regulatory regions 1971 and 3941 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.33

Genomic location:

• Chr4: 13484100 (on Assembly GRCh38)
• Chr4: 13485724 (on Assembly GRCh37)

Preferred name:

NM_001017979.3(RAB28):c.51G>T (p.Val17=)

HGVS:

• NC_000004.12:g.13484100C>A
• NG_033891.1:g.5266G>T
• NM_001017979.3:c.51G>TMANE SELECT
• NM_001159601.2:c.51G>T
• NM_004249.4:c.51G>T
• NP_001017979.1:p.Val17=
• NP_001153073.1:p.Val17=
• NP_004240.2:p.Val17=
• NC_000004.11:g.13485724C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001017979.3:c.51G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001159601.2:c.51G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004249.4:c.51G>T - synonymous variant - [Sequence Ontology: SO:0001819]