ClinVar

NM_001253852.3(AP4B1):c.114-2A>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

• Chr1: 113902864 (on Assembly GRCh38)
• Chr1: 114445486 (on Assembly GRCh37)

Preferred name:

NM_001253852.3(AP4B1):c.114-2A>C

HGVS:

• NC_000001.11:g.113902864T>G
• NG_031901.1:g.7256A>C
• NG_057565.1:g.3246T>G
• NM_001253852.3:c.114-2A>CMANE SELECT
• NM_001253853.3:c.-56-130A>C
• NM_001308312.2:c.113+1741A>C
• NM_006594.5:c.114-2A>C
• LRG_1219:g.3246T>G
• NC_000001.10:g.114445486T>G
• NM_001253852.1:c.114-2A>C
• NM_006594.3:c.114-2A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs879255396

NCBI 1000 Genomes Browser:

rs879255396

Molecular consequence:

• NM_001253853.3:c.-56-130A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001308312.2:c.113+1741A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001253852.3:c.114-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_006594.5:c.114-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]