ClinVar

NM_012388.4(BLOC1S6):c.82+10A>G

Gene:

BLOC1S6:biogenesis of lysosomal organelles complex 1 subunit 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 45587535 (on Assembly GRCh38)
• Chr15: 45879733 (on Assembly GRCh37)

Preferred name:

NM_012388.4(BLOC1S6):c.82+10A>G

HGVS:

• NC_000015.10:g.45587535A>G
• NG_028194.2:g.5317A>G
• NM_012388.4:c.82+10A>GMANE SELECT
• LRG_883t1:c.82+10A>G
• LRG_883:g.5317A>G
• NC_000015.9:g.45879733A>G
• NM_012388.3:c.82+10A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs370370639

NCBI 1000 Genomes Browser:

rs370370639

Molecular consequence:

• NM_012388.4:c.82+10A>G - intron variant - [Sequence Ontology: SO:0001627]