ClinVar

NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)

Gene:

AP1S3:adaptor related protein complex 1 subunit sigma 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q36.1

Genomic location:

• Chr2: 223777776 (on Assembly GRCh38)
• Chr2: 224642493 (on Assembly GRCh37)

Preferred name:

NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)

HGVS:

• NC_000002.12:g.223777776G>A
• NG_034017.1:g.64827C>T
• NM_001039569.2:c.97C>TMANE SELECT
• NP_001034658.1:p.Arg33Trp
• NC_000002.11:g.224642493G>A
• NM_001039569.1:c.97C>T
• NR_110905.2:n.229C>T
• NR_110906.2:n.229C>T
• Q96PC3:p.Arg33Trp

This HGVS expression did not pass validation

Protein change:

R33W; ARG33TRP

Links:

UniProtKB: Q96PC3#VAR_072549; OMIM: 615781.0001; dbSNP: rs138292988

NCBI 1000 Genomes Browser:

rs138292988

Molecular consequence:

• NM_001039569.2:c.97C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_110905.2:n.229C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110906.2:n.229C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

11