ClinVar

NM_177924.5(ASAH1):c.261C>T (p.Phe87=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p22

Genomic location:

• Chr8: 18069834 (on Assembly GRCh38)
• Chr8: 17927343 (on Assembly GRCh37)

Preferred name:

NM_177924.5(ASAH1):c.261C>T (p.Phe87=)

HGVS:

• NC_000008.11:g.18069834G>A
• NG_008985.2:g.20165C>T
• NM_001127505.3:c.285+1466C>T
• NM_001363743.2:c.66C>T
• NM_004315.6:c.309C>T
• NM_177924.5:c.261C>TMANE SELECT
• NP_001350672.1:p.Phe22=
• NP_004306.3:p.Phe103=
• NP_808592.2:p.Phe87=
• NC_000008.10:g.17927343G>A
• NC_000008.10:g.17927343G>A
• NG_008985.1:g.20165C>T
• NM_177924.3:c.261C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138662754

NCBI 1000 Genomes Browser:

rs138662754

Molecular consequence:

• NM_001127505.3:c.285+1466C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363743.2:c.66C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004315.6:c.309C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_177924.5:c.261C>T - synonymous variant - [Sequence Ontology: SO:0001819]