ClinVar

NM_001253852.3(AP4B1):c.1512G>A (p.Glu504=)

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: 113896037 (on Assembly GRCh38)
• Chr1: 114438659 (on Assembly GRCh37)

Preferred name:

NM_001253852.3(AP4B1):c.1512G>A (p.Glu504=)

HGVS:

• NC_000001.11:g.113896037C>T
• NG_031901.1:g.14083G>A
• NM_001253852.3:c.1512G>AMANE SELECT
• NM_001253853.3:c.1215G>A
• NM_001308312.2:c.1008G>A
• NM_006594.5:c.1512G>A
• NP_001240781.1:p.Glu504=
• NP_001240782.1:p.Glu405=
• NP_001295241.1:p.Glu336=
• NP_006585.2:p.Glu504=
• NC_000001.10:g.114438659C>T
• NM_006594.3:c.1512G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1553257180

NCBI 1000 Genomes Browser:

rs1553257180

Molecular consequence:

• NM_001253852.3:c.1512G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001253853.3:c.1215G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308312.2:c.1008G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006594.5:c.1512G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1