ClinVar

NM_001253852.3(AP4B1):c.69A>G (p.Gln23=)

Genes:

LOC129931235:ATAC-STARR-seq lymphoblastoid active region 1540 [Gene]
DCLRE1B:DNA cross-link repair 1B [Gene - OMIM - 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: 113904649 (on Assembly GRCh38)
• Chr1: 114447271 (on Assembly GRCh37)

Preferred name:

NM_001253852.3(AP4B1):c.69A>G (p.Gln23=)

HGVS:

• NC_000001.11:g.113904649T>C
• NG_031901.1:g.5471A>G
• NG_057565.1:g.5031T>C
• NG_164279.1:g.175T>C
• NM_001253852.3:c.69A>GMANE SELECT
• NM_001253853.3:c.-101A>G
• NM_001308312.2:c.69A>G
• NM_001319947.2:c.-390T>C
• NM_006594.5:c.69A>G
• NP_001240781.1:p.Gln23=
• NP_001295241.1:p.Gln23=
• NP_006585.2:p.Gln23=
• LRG_1219:g.5031T>C
• NC_000001.10:g.114447271T>C
• NM_006594.2:c.69A>G
• NM_006594.3:c.69A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs117872964

NCBI 1000 Genomes Browser:

rs117872964

Molecular consequence:

• NM_001253853.3:c.-101A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001319947.2:c.-390T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001253852.3:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308312.2:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006594.5:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]