ClinVar

NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)

Gene:

AP5Z1:adaptor related protein complex 5 subunit zeta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 4789918 (on Assembly GRCh38)
• Chr7: 4829549 (on Assembly GRCh37)

Preferred name:

NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)

HGVS:

• NC_000007.14:g.4789918C>T
• NG_028111.1:g.19288C>T
• NM_001364858.1:c.1326C>T
• NM_014855.3:c.1794C>TMANE SELECT
• NP_001351787.1:p.Ala442=
• NP_055670.1:p.Ala598=
• LRG_1247t1:c.1794C>T
• LRG_1247:g.19288C>T
• LRG_1247p1:p.Ala598=
• NC_000007.13:g.4829549C>T
• NM_014855.2:c.1794C>T
• NR_157345.1:n.1925C>T
• p.Ala598Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs374673921

NCBI 1000 Genomes Browser:

rs374673921

Molecular consequence:

• NR_157345.1:n.1925C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001364858.1:c.1326C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014855.3:c.1794C>T - synonymous variant - [Sequence Ontology: SO:0001819]