ClinVar

NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile)

Genes:

HPS3:HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 [Gene - OMIM - HGNC]
CP:ceruloplasmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q24

Genomic location:

• Chr3: 149172218 (on Assembly GRCh38)
• Chr3: 148890005 (on Assembly GRCh37)

Preferred name:

NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile)

HGVS:

• NC_000003.12:g.149172218C>T
• NG_009847.1:g.47635C>T
• NG_011800.3:g.54828G>A
• NM_001308258.2:c.2516C>T
• NM_032383.5:c.3011C>TMANE SELECT
• NP_001295187.1:p.Thr839Ile
• NP_115759.2:p.Thr1004Ile
• LRG_563t1:c.3011C>T
• LRG_563:g.47635C>T
• LRG_563p1:p.Thr1004Ile
• NC_000003.11:g.148890005C>T

This HGVS expression did not pass validation

Protein change:

T1004I

Molecular consequence:

• NM_001308258.2:c.2516C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032383.5:c.3011C>T - missense variant - [Sequence Ontology: SO:0001583]