ClinVar

NM_001017979.3(RAB28):c.68C>T (p.Ser23Phe)

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: 13484083 (on Assembly GRCh38)
• Chr4: 13485707 (on Assembly GRCh37)

Preferred name:

NM_001017979.3(RAB28):c.68C>T (p.Ser23Phe)

HGVS:

• NC_000004.12:g.13484083G>A
• NG_033891.1:g.5283C>T
• NM_001017979.3:c.68C>TMANE SELECT
• NM_001159601.2:c.68C>T
• NM_004249.4:c.68C>T
• NP_001017979.1:p.Ser23Phe
• NP_001153073.1:p.Ser23Phe
• NP_004240.2:p.Ser23Phe
• NC_000004.11:g.13485707G>A
• NM_004249.3:c.68C>T

This HGVS expression did not pass validation

Protein change:

S23F

Links:

dbSNP: rs769199865

NCBI 1000 Genomes Browser:

rs769199865

Molecular consequence:

• NM_001017979.3:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001159601.2:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004249.4:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]