ClinVar

NM_177924.5(ASAH1):c.383-80_383-73del

Gene:

ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8p22

Genomic location:

• Chr8: 18064604 - 18064611 (on Assembly GRCh38)
• Chr8: 17922113 - 17922120 (on Assembly GRCh37)

Preferred name:

NM_177924.5(ASAH1):c.383-80_383-73del

HGVS:

• NC_000008.11:g.18064608_18064615del
• NG_008985.2:g.25388_25395del
• NM_001127505.3:c.365-80_365-73del
• NM_001363743.2:c.188-80_188-73del
• NM_004315.6:c.431-80_431-73del
• NM_177924.5:c.383-80_383-73delMANE SELECT
• NC_000008.10:g.17922117_17922124del

This HGVS expression did not pass validation

Links:

dbSNP: rs138483601

NCBI 1000 Genomes Browser:

rs138483601

Molecular consequence:

• NM_001127505.3:c.365-80_365-73del - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363743.2:c.188-80_188-73del - intron variant - [Sequence Ontology: SO:0001627]
• NM_004315.6:c.431-80_431-73del - intron variant - [Sequence Ontology: SO:0001627]
• NM_177924.5:c.383-80_383-73del - intron variant - [Sequence Ontology: SO:0001627]