ClinVar

NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)

Gene:

RAC3:Rac family small GTPase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 82032437 (on Assembly GRCh38)
• Chr17: 79990313 (on Assembly GRCh37)

Preferred name:

NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)

HGVS:

• NC_000017.11:g.82032437C>T
• NM_001316307.2:c.86C>T
• NM_005052.3:c.86C>TMANE SELECT
• NP_001303236.1:p.Pro29Leu
• NP_005043.1:p.Pro29Leu
• NC_000017.10:g.79990313C>T
• NM_005052.2:c.86C>T

This HGVS expression did not pass validation

Protein change:

P29L; PRO29LEU

Links:

OMIM: 602050.0003; dbSNP: rs1568018697

NCBI 1000 Genomes Browser:

rs1568018697

Molecular consequence:

• NM_001316307.2:c.86C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005052.3:c.86C>T - missense variant - [Sequence Ontology: SO:0001583]