ClinVar

NM_130797.4(DPP6):c.2036G>A (p.Arg679Gln)

Gene:

DPP6:dipeptidyl peptidase like 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.2

Genomic location:

• Chr7: 154876058 (on Assembly GRCh38)
• Chr7: 154667768 (on Assembly GRCh37)

Preferred name:

NM_130797.4(DPP6):c.2036G>A (p.Arg679Gln)

HGVS:

• NC_000007.14:g.154876058G>A
• NG_033878.2:g.1133073G>A
• NM_001039350.3:c.1844G>A
• NM_001290252.2:c.1715G>A
• NM_001364497.2:c.1853G>A
• NM_001364498.2:c.1853G>A
• NM_001364499.2:c.1853G>A
• NM_001364500.2:c.1853G>A
• NM_001936.5:c.1850G>A
• NM_130797.4:c.2036G>AMANE SELECT
• NP_001034439.1:p.Arg615Gln
• NP_001277181.1:p.Arg572Gln
• NP_001351426.1:p.Arg618Gln
• NP_001351427.1:p.Arg618Gln
• NP_001351428.1:p.Arg618Gln
• NP_001351429.1:p.Arg618Gln
• NP_001927.3:p.Arg617Gln
• NP_570629.2:p.Arg679Gln
• NC_000007.13:g.154667768G>A
• NR_157195.2:n.2416G>A
• NR_157196.2:n.2190G>A

This HGVS expression did not pass validation

Protein change:

R572Q

Molecular consequence:

• NM_001039350.3:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290252.2:c.1715G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364497.2:c.1853G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364498.2:c.1853G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364499.2:c.1853G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364500.2:c.1853G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001936.5:c.1850G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_130797.4:c.2036G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_157195.2:n.2416G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_157196.2:n.2190G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1