ClinVar

NM_001164.5(APBB1):c.2082G>T (p.Gln694His)

Gene:

APBB1:amyloid beta precursor protein binding family B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6395585 (on Assembly GRCh38)
• Chr11: 6416815 (on Assembly GRCh37)

Preferred name:

NM_001164.5(APBB1):c.2082G>T (p.Gln694His)

HGVS:

• NC_000011.10:g.6395585C>A
• NG_011780.1:g.10161C>A
• NG_029615.1:g.28830G>T
• NM_001164.5:c.2082G>TMANE SELECT
• NM_001257319.3:c.1422G>T
• NM_001257320.2:c.1305G>T
• NM_001257321.2:c.1305G>T
• NM_001257323.3:c.1416G>T
• NM_001257325.3:c.1377G>T
• NM_001257326.2:c.1305G>T
• NM_145689.3:c.2076G>T
• NP_001155.1:p.Gln694His
• NP_001244248.1:p.Gln474His
• NP_001244249.1:p.Gln435His
• NP_001244250.1:p.Gln435His
• NP_001244252.1:p.Gln472His
• NP_001244254.1:p.Gln459His
• NP_001244255.1:p.Gln435His
• NP_663722.1:p.Gln692His
• NC_000011.9:g.6416815C>A
• NM_001164.2:c.2082G>T

This HGVS expression did not pass validation

Protein change:

Q435H

Molecular consequence:

• NM_001164.5:c.2082G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257319.3:c.1422G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257320.2:c.1305G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257321.2:c.1305G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257323.3:c.1416G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257325.3:c.1377G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257326.2:c.1305G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145689.3:c.2076G>T - missense variant - [Sequence Ontology: SO:0001583]