ClinVar

NM_000096.4(CP):c.3182-4A>G

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: 149173734 (on Assembly GRCh38)
• Chr3: 148891521 (on Assembly GRCh37)

Preferred name:

NM_000096.4(CP):c.3182-4A>G

HGVS:

• NC_000003.12:g.149173734T>C
• NG_009847.1:g.49151T>C
• NG_011800.2:g.53312A>G
• NM_000096.4:c.3182-4A>GMANE SELECT
• LRG_563:g.49151T>C
• NC_000003.11:g.148891521T>C
• NM_000096.3:c.3182-4A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs34272112

NCBI 1000 Genomes Browser:

rs34272112

Molecular consequence:

• NM_000096.4:c.3182-4A>G - intron variant - [Sequence Ontology: SO:0001627]