ClinVar

NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val)

Gene:

RIPOR2:RHO family interacting cell polarization regulator 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

• Chr6: 24842962 (on Assembly GRCh38)
• Chr6: 24843190 (on Assembly GRCh37)

Preferred name:

NM_001286445.3(RIPOR2):c.1757C>T (p.Ala586Val)

HGVS:

• NC_000006.12:g.24842962G>A
• NG_051606.1:g.204327C>T
• NM_001286445.3:c.1757C>TMANE SELECT
• NM_001286446.3:c.1772C>T
• NM_001286447.2:c.1670C>T
• NM_001346031.2:c.1670C>T
• NM_001346032.2:c.1670C>T
• NM_014722.4:c.1820C>T
• NM_014722.5:c.1820C>T
• NM_015864.5:c.1670C>T
• NP_001273374.1:p.Ala586Val
• NP_001273375.1:p.Ala591Val
• NP_001273376.1:p.Ala557Val
• NP_001332960.1:p.Ala557Val
• NP_001332961.1:p.Ala557Val
• NP_055537.2:p.Ala607Val
• NP_056948.2:p.Ala557Val
• NC_000006.11:g.24843190G>A
• NC_000006.11:g.24843190G>A
• NM_014722.3:c.1820C>T

This HGVS expression did not pass validation

Protein change:

A557V

Links:

dbSNP: rs189463989

NCBI 1000 Genomes Browser:

rs189463989

Molecular consequence:

• NM_001286445.3:c.1757C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286446.3:c.1772C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286447.2:c.1670C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346031.2:c.1670C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346032.2:c.1670C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014722.5:c.1820C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015864.5:c.1670C>T - missense variant - [Sequence Ontology: SO:0001583]