ClinVar

NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.3

Genomic location:

• Chr6: 24806384 (on Assembly GRCh38)
• Chr6: 24806612 (on Assembly GRCh37)

Preferred name:

NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)

HGVS:

• NC_000006.12:g.24806384T>C
• NG_051606.1:g.240905A>G
• NM_001286445.3:c.3133A>GMANE SELECT
• NM_001346031.2:c.3046A>G
• NM_001346032.2:c.3046A>G
• NM_014722.4:c.3196A>G
• NM_014722.5:c.3196A>G
• NP_001273374.1:p.Thr1045Ala
• NP_001332960.1:p.Thr1016Ala
• NP_001332961.1:p.Thr1016Ala
• NP_055537.2:p.Thr1066Ala
• NC_000006.11:g.24806612T>C
• NM_014722.3:c.3196A>G

This HGVS expression did not pass validation

Protein change:

T1016A

Links:

dbSNP: rs373913240

NCBI 1000 Genomes Browser:

rs373913240

Molecular consequence:

• NM_001286445.3:c.3133A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346031.2:c.3046A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346032.2:c.3046A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014722.5:c.3196A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2