ClinVar

NM_130797.4(DPP6):c.940G>A (p.Ala314Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.2

Genomic location:

• Chr7: 154769473 (on Assembly GRCh38)
• Chr7: 154561183 (on Assembly GRCh37)

Preferred name:

NM_130797.4(DPP6):c.940G>A (p.Ala314Thr)

HGVS:

• NC_000007.14:g.154769473G>A
• NG_033878.2:g.1026488G>A
• NM_001039350.3:c.748G>A
• NM_001290252.2:c.619G>A
• NM_001364497.2:c.757G>A
• NM_001364498.2:c.757G>A
• NM_001364499.2:c.757G>A
• NM_001364500.2:c.757G>A
• NM_001364501.2:c.748G>A
• NM_001936.5:c.754G>A
• NM_130797.4:c.940G>AMANE SELECT
• NP_001034439.1:p.Ala250Thr
• NP_001277181.1:p.Ala207Thr
• NP_001351426.1:p.Ala253Thr
• NP_001351427.1:p.Ala253Thr
• NP_001351428.1:p.Ala253Thr
• NP_001351429.1:p.Ala253Thr
• NP_001351430.1:p.Ala250Thr
• NP_001927.3:p.Ala252Thr
• NP_570629.2:p.Ala314Thr
• NC_000007.13:g.154561183G>A
• NR_157195.2:n.1390G>A
• NR_157196.2:n.1090G>A

This HGVS expression did not pass validation

Protein change:

A207T

Molecular consequence:

• NM_001039350.3:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290252.2:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364497.2:c.757G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364498.2:c.757G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364499.2:c.757G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364500.2:c.757G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364501.2:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001936.5:c.754G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_130797.4:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_157195.2:n.1390G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_157196.2:n.1090G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1