ClinVar

NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.2

Genomic location:

• Chr7: 154853824 (on Assembly GRCh38)
• Chr7: 154645534 (on Assembly GRCh37)

Preferred name:

NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)

HGVS:

• NC_000007.14:g.154853824A>C
• NG_033878.2:g.1110839A>C
• NM_001039350.3:c.1519A>C
• NM_001290252.2:c.1390A>C
• NM_001364497.2:c.1528A>C
• NM_001364498.2:c.1528A>C
• NM_001364499.2:c.1528A>C
• NM_001364500.2:c.1528A>C
• NM_001936.4:c.1525A>C
• NM_001936.5:c.1525A>C
• NM_130797.4:c.1711A>CMANE SELECT
• NP_001034439.1:p.Lys507Gln
• NP_001277181.1:p.Lys464Gln
• NP_001351426.1:p.Lys510Gln
• NP_001351427.1:p.Lys510Gln
• NP_001351428.1:p.Lys510Gln
• NP_001351429.1:p.Lys510Gln
• NP_001927.3:p.Lys509Gln
• NP_570629.2:p.Lys571Gln
• NC_000007.13:g.154645534A>C
• NM_001039350.1:c.1519A>C
• NR_157195.2:n.2161A>C
• NR_157196.2:n.1861A>C

This HGVS expression did not pass validation

Protein change:

K464Q

Links:

dbSNP: rs140460765

NCBI 1000 Genomes Browser:

rs140460765

Molecular consequence:

• NM_001039350.3:c.1519A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290252.2:c.1390A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364497.2:c.1528A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364498.2:c.1528A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364499.2:c.1528A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364500.2:c.1528A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001936.5:c.1525A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_130797.4:c.1711A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_157195.2:n.2161A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_157196.2:n.1861A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]