ClinVar

NM_006721.4(ADK):c.1031C>T (p.Ala344Val)

Gene:

ADK:adenosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.2

Genomic location:

• Chr10: 74708387 (on Assembly GRCh38)
• Chr10: 76468145 (on Assembly GRCh37)

Preferred name:

NM_006721.4(ADK):c.1031C>T (p.Ala344Val)

HGVS:

• NC_000010.11:g.74708387C>T
• NG_030484.2:g.562203C>T
• NM_001123.4:c.980C>T
• NM_001202449.2:c.926C>T
• NM_001202450.2:c.860C>T
• NM_001369123.1:c.*31C>T
• NM_001369124.1:c.809C>T
• NM_006721.4:c.1031C>TMANE SELECT
• NP_001114.2:p.Ala327Val
• NP_001189378.1:p.Ala309Val
• NP_001189379.1:p.Ala287Val
• NP_001356053.1:p.Ala270Val
• NP_006712.2:p.Ala344Val
• NC_000010.10:g.76468145C>T

This HGVS expression did not pass validation

Protein change:

A270V

Links:

dbSNP: rs1589387419

NCBI 1000 Genomes Browser:

rs1589387419

Molecular consequence:

• NM_001369123.1:c.*31C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001123.4:c.980C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001202449.2:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001202450.2:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369124.1:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006721.4:c.1031C>T - missense variant - [Sequence Ontology: SO:0001583]