ClinVar

NM_022742.5(CCDC136):c.1294G>A (p.Val432Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 128806733 (on Assembly GRCh38)
• Chr7: 128446787 (on Assembly GRCh37)

Preferred name:

NM_022742.5(CCDC136):c.1294G>A (p.Val432Ile)

HGVS:

• NC_000007.14:g.128806733G>A
• NM_001201372.2:c.1203+832G>A
• NM_001363423.2:c.1444G>A
• NM_001363424.2:c.1408G>A
• NM_001367761.1:c.1239+832G>A
• NM_001367762.1:c.1408G>A
• NM_001367763.1:c.1444G>A
• NM_001367764.1:c.1444G>A
• NM_001367765.1:c.1294G>A
• NM_001367766.1:c.1089+832G>A
• NM_022742.5:c.1294G>AMANE SELECT
• NP_001350352.1:p.Val482Ile
• NP_001350353.1:p.Val470Ile
• NP_001354691.1:p.Val470Ile
• NP_001354692.1:p.Val482Ile
• NP_001354693.1:p.Val482Ile
• NP_001354694.1:p.Val432Ile
• NP_073579.5:p.Val432Ile
• NC_000007.13:g.128446787G>A
• NM_022742.4:c.1294G>A

This HGVS expression did not pass validation

Protein change:

V432I

Links:

dbSNP: rs61746779

NCBI 1000 Genomes Browser:

rs61746779

Molecular consequence:

• NM_001201372.2:c.1203+832G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367761.1:c.1239+832G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001367766.1:c.1089+832G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363423.2:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363424.2:c.1408G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367762.1:c.1408G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367763.1:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367764.1:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367765.1:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022742.5:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]