ClinVar

NM_006908.5(RAC1):c.218C>T (p.Pro73Leu)

Gene:

RAC1:Rac family small GTPase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 6392034 (on Assembly GRCh38)
• Chr7: 6431665 (on Assembly GRCh37)

Preferred name:

NM_006908.5(RAC1):c.218C>T (p.Pro73Leu)

HGVS:

• NC_000007.14:g.6392034C>T
• NG_029431.1:g.22540C>T
• NM_006908.5:c.218C>TMANE SELECT
• NM_018890.4:c.218C>T
• NP_008839.2:p.Pro73Leu
• NP_061485.1:p.Pro73Leu
• NC_000007.13:g.6431665C>T
• NM_018890.3:c.218C>T

This HGVS expression did not pass validation

Protein change:

P73L

Links:

dbSNP: rs2115201441

NCBI 1000 Genomes Browser:

rs2115201441

Molecular consequence:

• NM_006908.5:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018890.4:c.218C>T - missense variant - [Sequence Ontology: SO:0001583]