ClinVar

NM_022742.5(CCDC136):c.1490G>A (p.Arg497Gln)

Gene:

CCDC136:coiled-coil domain containing 136 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128807430 (on Assembly GRCh38)
• Chr7: 128447484 (on Assembly GRCh37)

Preferred name:

NM_022742.5(CCDC136):c.1490G>A (p.Arg497Gln)

HGVS:

• NC_000007.14:g.128807430G>A
• NM_001201372.2:c.1203+1529G>A
• NM_001363423.2:c.1640G>A
• NM_001363424.2:c.1604G>A
• NM_001367761.1:c.1239+1529G>A
• NM_001367762.1:c.1604G>A
• NM_001367763.1:c.1640G>A
• NM_001367764.1:c.1640G>A
• NM_001367765.1:c.1490G>A
• NM_001367766.1:c.1089+1529G>A
• NM_022742.5:c.1490G>AMANE SELECT
• NP_001350352.1:p.Arg547Gln
• NP_001350353.1:p.Arg535Gln
• NP_001354691.1:p.Arg535Gln
• NP_001354692.1:p.Arg547Gln
• NP_001354693.1:p.Arg547Gln
• NP_001354694.1:p.Arg497Gln
• NP_073579.5:p.Arg497Gln
• NC_000007.13:g.128447484G>A
• NM_022742.4:c.1490G>A

This HGVS expression did not pass validation

Protein change:

R497Q

Molecular consequence:

• NM_001201372.2:c.1203+1529G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367761.1:c.1239+1529G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367766.1:c.1089+1529G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363423.2:c.1640G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363424.2:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367762.1:c.1604G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367763.1:c.1640G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367764.1:c.1640G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367765.1:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022742.5:c.1490G>A - missense variant - [Sequence Ontology: SO:0001583]