ClinVar

NM_020348.3(CNNM1):c.37G>A (p.Val13Ile)

Gene:

CNNM1:cyclin and CBS domain divalent metal cation transport mediator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.2

Genomic location:

• Chr10: 99329424 (on Assembly GRCh38)
• Chr10: 101089181 (on Assembly GRCh37)

Preferred name:

NM_020348.3(CNNM1):c.37G>A (p.Val13Ile)

HGVS:

• NC_000010.11:g.99329424G>A
• NG_051577.1:g.5326G>A
• NM_001345887.2:c.37G>A
• NM_001345888.2:c.37G>A
• NM_001345889.2:c.37G>A
• NM_020348.3:c.37G>AMANE SELECT
• NP_001332816.1:p.Val13Ile
• NP_001332817.1:p.Val13Ile
• NP_001332818.1:p.Val13Ile
• NP_065081.2:p.Val13Ile
• NC_000010.10:g.101089181G>A
• NM_020348.2:c.37G>A
• NR_144311.2:n.69G>A

This HGVS expression did not pass validation

Protein change:

V13I

Molecular consequence:

• NM_001345887.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001345888.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001345889.2:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020348.3:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_144311.2:n.69G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]