ClinVar

NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p22

Genomic location:

• Chr8: 18057617 (on Assembly GRCh38)
• Chr8: 17915126 (on Assembly GRCh37)

Preferred name:

NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile)

HGVS:

• NC_000008.11:g.18057617C>T
• NG_008985.2:g.32382G>A
• NM_001127505.3:c.1087G>A
• NM_001363743.2:c.910G>A
• NM_004315.6:c.1153G>A
• NM_177924.5:c.1105G>AMANE SELECT
• NP_001120977.1:p.Val363Ile
• NP_001350672.1:p.Val304Ile
• NP_004306.3:p.Val385Ile
• NP_808592.2:p.Val369Ile
• NC_000008.10:g.17915126C>T
• NG_008985.1:g.32382G>A
• NM_004315.4:c.1153G>A
• NM_004315.5:c.1153G>A
• NM_177924.3:c.1105G>A
• Q13510:p.Val369Ile

This HGVS expression did not pass validation

Protein change:

V304I

Links:

UniProtKB: Q13510#VAR_021587; dbSNP: rs17636067

NCBI 1000 Genomes Browser:

rs17636067

Molecular consequence:

• NM_001127505.3:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363743.2:c.910G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004315.6:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_177924.5:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]