ClinVar

NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)

Gene:

AP3B1:adaptor related protein complex 3 subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.1

Genomic location:

• Chr5: 78129275 (on Assembly GRCh38)
• Chr5: 77425099 (on Assembly GRCh37)

Preferred name:

NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)

HGVS:

• NC_000005.10:g.78129275G>A
• NG_007268.1:g.170430C>T
• NM_001271769.2:c.1536C>T
• NM_003664.5:c.1683C>TMANE SELECT
• NP_001258698.1:p.Leu512=
• NP_003655.3:p.Leu561=
• NP_003655.3:p.Leu561=
• LRG_170t1:c.1683C>T
• LRG_170:g.170430C>T
• LRG_170p1:p.Leu561=
• NC_000005.9:g.77425099G>A
• NM_003664.3:c.1683C>T
• NM_003664.4:c.1683C>T
• p.Leu561Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs17192146

NCBI 1000 Genomes Browser:

rs17192146

Molecular consequence:

• NM_001271769.2:c.1536C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003664.5:c.1683C>T - synonymous variant - [Sequence Ontology: SO:0001819]