ClinVar

NM_152327.5(AK7):c.1418G>A (p.Cys473Tyr)

Gene:

AK7:adenylate kinase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.2

Genomic location:

• Chr14: 96471538 (on Assembly GRCh38)
• Chr14: 96937875 (on Assembly GRCh37)

Preferred name:

NM_152327.5(AK7):c.1418G>A (p.Cys473Tyr)

HGVS:

• NC_000014.9:g.96471538G>A
• NG_054631.1:g.84428G>A
• NM_001350888.2:c.1418G>A
• NM_001350890.2:c.1418G>A
• NM_001350891.2:c.1340G>A
• NM_001350892.2:c.1358-6927G>A
• NM_152327.5:c.1418G>AMANE SELECT
• NP_001337817.1:p.Cys473Tyr
• NP_001337819.1:p.Cys473Tyr
• NP_001337820.1:p.Cys447Tyr
• NP_689540.2:p.Cys473Tyr
• NC_000014.8:g.96937875G>A
• NM_152327.2:c.1418G>A

This HGVS expression did not pass validation

Protein change:

C447Y

Molecular consequence:

• NM_001350892.2:c.1358-6927G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350888.2:c.1418G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350890.2:c.1418G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001350891.2:c.1340G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_152327.5:c.1418G>A - missense variant - [Sequence Ontology: SO:0001583]