ClinVar

NM_177924.5(ASAH1):c.382+84C>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p22

Genomic location:

• Chr8: 18067136 (on Assembly GRCh38)
• Chr8: 17924645 (on Assembly GRCh37)

Preferred name:

NM_177924.5(ASAH1):c.382+84C>A

HGVS:

• NC_000008.11:g.18067136G>T
• NG_008985.2:g.22863C>A
• NM_001127505.3:c.364+84C>A
• NM_001363743.2:c.187+84C>A
• NM_004315.6:c.430+84C>A
• NM_177924.5:c.382+84C>AMANE SELECT
• NC_000008.10:g.17924645G>T
• NG_008985.1:g.22863C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs115973081

NCBI 1000 Genomes Browser:

rs115973081

Molecular consequence:

• NM_001127505.3:c.364+84C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363743.2:c.187+84C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_004315.6:c.430+84C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_177924.5:c.382+84C>A - intron variant - [Sequence Ontology: SO:0001627]