ClinVar

NM_000484.4(APP):c.2010G>A (p.Lys670=)

Gene:

APP:amyloid beta precursor protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q21.3

Genomic location:

• Chr21: 25897627 (on Assembly GRCh38)
• Chr21: 27269939 (on Assembly GRCh37)

Preferred name:

NM_000484.4(APP):c.2010G>A (p.Lys670=)

HGVS:

• NC_000021.9:g.25897627C>T
• NG_007376.2:g.278502G>A
• NM_000484.4:c.2010G>AMANE SELECT
• NM_001136016.3:c.1938G>A
• NM_001136129.3:c.1617G>A
• NM_001136130.3:c.1842G>A
• NM_001136131.3:c.1680G>A
• NM_001204301.2:c.1956G>A
• NM_001204302.2:c.1899G>A
• NM_001204303.2:c.1731G>A
• NM_001385253.1:c.1842G>A
• NM_201413.3:c.1953G>A
• NM_201414.3:c.1785G>A
• NP_000475.1:p.Lys670=
• NP_000475.1:p.Lys670=
• NP_001129488.1:p.Lys646=
• NP_001129601.1:p.Lys539=
• NP_001129602.1:p.Lys614=
• NP_001129603.1:p.Lys560=
• NP_001191230.1:p.Lys652=
• NP_001191231.1:p.Lys633=
• NP_001191232.1:p.Lys577=
• NP_001372182.1:p.Lys614=
• NP_958816.1:p.Lys651=
• NP_958817.1:p.Lys595=
• NC_000021.8:g.27269939C>T
• NM_000484.2:c.2010G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000484.4:c.2010G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136016.3:c.1938G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136129.3:c.1617G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136130.3:c.1842G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136131.3:c.1680G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204301.2:c.1956G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204302.2:c.1899G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204303.2:c.1731G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385253.1:c.1842G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201413.3:c.1953G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201414.3:c.1785G>A - synonymous variant - [Sequence Ontology: SO:0001819]