ClinVar

NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter)

Genes:

AP4B1-AS1:AP4B1 antisense RNA 1 [Gene - HGNC]
AP4B1:adaptor related protein complex 4 subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

• Chr1: 113896423 (on Assembly GRCh38)
• Chr1: 114439045 (on Assembly GRCh37)

Preferred name:

NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter)

HGVS:

• NC_000001.11:g.113896423T>A
• NG_031901.1:g.13697A>T
• NM_001253852.3:c.1345A>TMANE SELECT
• NM_001253853.3:c.1048A>T
• NM_001308312.2:c.841A>T
• NM_006594.5:c.1345A>T
• NP_001240781.1:p.Arg449Ter
• NP_001240782.1:p.Arg350Ter
• NP_001295241.1:p.Arg281Ter
• NP_006585.2:p.Arg449Ter
• NC_000001.10:g.114439045T>A
• NM_001253852.1:c.1345A>T
• NM_006594.2:c.1345A>T

This HGVS expression did not pass validation

Protein change:

R281*

Links:

dbSNP: rs142209254

NCBI 1000 Genomes Browser:

rs142209254

Molecular consequence:

• NM_001253852.3:c.1345A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001253853.3:c.1048A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001308312.2:c.841A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_006594.5:c.1345A>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1