ClinVar

NM_000484.4(APP):c.1416C>T (p.Ala472=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q21.3

Genomic location:

• Chr21: 25975112 (on Assembly GRCh38)
• Chr21: 27347425 (on Assembly GRCh37)

Preferred name:

NM_000484.4(APP):c.1416C>T (p.Ala472=)

HGVS:

• NC_000021.9:g.25975112G>A
• NG_007376.2:g.201017C>T
• NM_000484.4:c.1416C>TMANE SELECT
• NM_001136016.3:c.1344C>T
• NM_001136129.3:c.1023C>T
• NM_001136130.3:c.1248C>T
• NM_001136131.3:c.1086C>T
• NM_001204301.2:c.1416C>T
• NM_001204302.2:c.1359C>T
• NM_001204303.2:c.1191C>T
• NM_001385253.1:c.1248C>T
• NM_201413.3:c.1359C>T
• NM_201414.3:c.1191C>T
• NP_000475.1:p.Ala472=
• NP_000475.1:p.Ala472=
• NP_001129488.1:p.Ala448=
• NP_001129601.1:p.Ala341=
• NP_001129602.1:p.Ala416=
• NP_001129603.1:p.Ala362=
• NP_001191230.1:p.Ala472=
• NP_001191231.1:p.Ala453=
• NP_001191232.1:p.Ala397=
• NP_001372182.1:p.Ala416=
• NP_958816.1:p.Ala453=
• NP_958817.1:p.Ala397=
• NC_000021.8:g.27347425G>A
• NM_000484.2:c.1416C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000484.4:c.1416C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136016.3:c.1344C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136129.3:c.1023C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136130.3:c.1248C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136131.3:c.1086C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204301.2:c.1416C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204302.2:c.1359C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204303.2:c.1191C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385253.1:c.1248C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201413.3:c.1359C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201414.3:c.1191C>T - synonymous variant - [Sequence Ontology: SO:0001819]