ClinVar

NM_018367.7(ACER3):c.292T>C (p.Tyr98His)

Gene:

ACER3:alkaline ceramidase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

• Chr11: 76976313 (on Assembly GRCh38)
• Chr11: 76687357 (on Assembly GRCh37)

Preferred name:

NM_018367.7(ACER3):c.292T>C (p.Tyr98His)

HGVS:

• NC_000011.10:g.76976313T>C
• NM_001300953.2:c.181T>C
• NM_001300954.2:c.7T>C
• NM_001300955.2:c.7T>C
• NM_018367.7:c.292T>CMANE SELECT
• NP_001287882.1:p.Tyr61His
• NP_001287883.1:p.Tyr3His
• NP_001287884.1:p.Tyr3His
• NP_060837.3:p.Tyr98His
• NC_000011.9:g.76687357T>C
• NM_018367.6:c.292T>C

This HGVS expression did not pass validation

Protein change:

Y3H

Links:

dbSNP: rs1948442632

NCBI 1000 Genomes Browser:

rs1948442632

Molecular consequence:

• NM_001300953.2:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300954.2:c.7T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300955.2:c.7T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018367.7:c.292T>C - missense variant - [Sequence Ontology: SO:0001583]