ClinVar

NM_001664.4(RHOA):c.13C>T (p.Arg5Trp)

Gene:

RHOA:ras homolog family member A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 49375577 (on Assembly GRCh38)
• Chr3: 49413010 (on Assembly GRCh37)

Preferred name:

NM_001664.4(RHOA):c.13C>T (p.Arg5Trp)

HGVS:

• NC_000003.12:g.49375577G>A
• NG_051308.1:g.41521C>T
• NM_001313941.2:c.13C>T
• NM_001313943.2:c.13C>T
• NM_001313944.2:c.13C>T
• NM_001313945.2:c.-147-84C>T
• NM_001313946.2:c.13C>T
• NM_001313947.2:c.13C>T
• NM_001664.4:c.13C>TMANE SELECT
• NP_001300870.1:p.Arg5Trp
• NP_001300872.1:p.Arg5Trp
• NP_001300873.1:p.Arg5Trp
• NP_001300875.1:p.Arg5Trp
• NP_001300876.1:p.Arg5Trp
• NP_001655.1:p.Arg5Trp
• LRG_1085t1:c.13C>T
• LRG_1085:g.41521C>T
• LRG_1085p1:p.Arg5Trp
• NC_000003.11:g.49413010G>A

This HGVS expression did not pass validation

Protein change:

R5W

Links:

dbSNP: rs1057519952

NCBI 1000 Genomes Browser:

rs1057519952

Molecular consequence:

• NM_001313945.2:c.-147-84C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001313941.2:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313943.2:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313944.2:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313946.2:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001313947.2:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001664.4:c.13C>T - missense variant - [Sequence Ontology: SO:0001583]