ClinVar

NM_152327.5(AK7):c.2134-336A>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.2

Genomic location:

• Chr14: 96487969 (on Assembly GRCh38)
• Chr14: 96954306 (on Assembly GRCh37)

Preferred name:

NM_152327.5(AK7):c.2134-336A>C

HGVS:

• NC_000014.9:g.96487969A>C
• NG_054631.1:g.100859A>C
• NM_001350888.2:c.2076A>C
• NM_001350890.2:c.2065-336A>C
• NM_001350891.2:c.2056-336A>C
• NM_001350892.2:c.1936-336A>C
• NM_152327.5:c.2134-336A>CMANE SELECT
• NP_001337817.1:p.Gln692His
• NC_000014.8:g.96954306A>C
• NM_001350888.1:c.2076A>C

This HGVS expression did not pass validation

Protein change:

Q692H

Molecular consequence:

• NM_001350890.2:c.2065-336A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350891.2:c.2056-336A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350892.2:c.1936-336A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_152327.5:c.2134-336A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350888.2:c.2076A>C - missense variant - [Sequence Ontology: SO:0001583]