ClinVar

NM_004900.5(APOBEC3B):c.325T>G (p.Ser109Ala)

Genes:

APOBEC3A:apolipoprotein B mRNA editing enzyme catalytic subunit 3A [Gene - OMIM - HGNC]
APOBEC3B:apolipoprotein B mRNA editing enzyme catalytic subunit 3B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 38985962 (on Assembly GRCh38)
• Chr22: 39381967 (on Assembly GRCh37)

Preferred name:

NM_004900.5(APOBEC3B):c.325T>G (p.Ser109Ala)

HGVS:

• NC_000022.11:g.38985962T>G
• NG_087647.1:g.1334T>G
• NM_001270411.2:c.325T>G
• NM_004900.5:c.325T>GMANE SELECT
• NP_001257340.2:p.Ser109Ala
• NP_004891.5:p.Ser109Ala
• NC_000022.10:g.39381967T>G

This HGVS expression did not pass validation

Protein change:

S109A

Molecular consequence:

• NM_001270411.2:c.325T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_004900.5:c.325T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3