ClinVar

NM_000484.4(APP):c.2265C>T (p.Asn755=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q21.3

Genomic location:

• Chr21: 25881718 (on Assembly GRCh38)
• Chr21: 27254029 (on Assembly GRCh37)

Preferred name:

NM_000484.4(APP):c.2265C>T (p.Asn755=)

HGVS:

• NC_000021.9:g.25881718G>A
• NG_007376.2:g.294411C>T
• NM_000484.4:c.2265C>TMANE SELECT
• NM_001136016.3:c.2193C>T
• NM_001136129.3:c.1872C>T
• NM_001136130.3:c.2097C>T
• NM_001136131.3:c.1935C>T
• NM_001204301.2:c.2211C>T
• NM_001204302.2:c.2154C>T
• NM_001204303.2:c.1986C>T
• NM_001385253.1:c.2097C>T
• NM_201413.3:c.2208C>T
• NM_201414.3:c.2040C>T
• NP_000475.1:p.Asn755=
• NP_000475.1:p.Asn755=
• NP_001129488.1:p.Asn731=
• NP_001129601.1:p.Asn624=
• NP_001129602.1:p.Asn699=
• NP_001129603.1:p.Asn645=
• NP_001191230.1:p.Asn737=
• NP_001191231.1:p.Asn718=
• NP_001191232.1:p.Asn662=
• NP_001372182.1:p.Asn699=
• NP_958816.1:p.Asn736=
• NP_958817.1:p.Asn680=
• NC_000021.8:g.27254029G>A
• NM_000484.2:c.2265C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000484.4:c.2265C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136016.3:c.2193C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136129.3:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136130.3:c.2097C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001136131.3:c.1935C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204301.2:c.2211C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204302.2:c.2154C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204303.2:c.1986C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385253.1:c.2097C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201413.3:c.2208C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201414.3:c.2040C>T - synonymous variant - [Sequence Ontology: SO:0001819]