ClinVar

NM_001037161.2(ACOT1):c.410_423del (p.Glu137fs)

Genes:

HEATR4:HEAT repeat containing 4 [Gene - HGNC]
ACOT1:acyl-CoA thioesterase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 73537826 - 73537839 (on Assembly GRCh38)
• Chr14: 74004530 - 74004543 (on Assembly GRCh37)

Preferred name:

NM_001037161.2(ACOT1):c.410_423del (p.Glu137fs)

HGVS:

• NC_000014.9:g.73537831_73537844del
• NM_001037161.2:c.410_423delMANE SELECT
• NM_001220484.1:c.-151-7595_-151-7582delMANE SELECT
• NM_203309.2:c.-72-14615_-72-14602del
• NP_001032238.1:p.Glu137fs
• NC_000014.8:g.74004535_74004548del
• NM_001037161.1:c.410_423delAGCCGGTGCGCGCG

This HGVS expression did not pass validation

Protein change:

E137fs

Links:

dbSNP: rs1057519450

NCBI 1000 Genomes Browser:

rs1057519450

Molecular consequence:

• NM_001037161.2:c.410_423del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001220484.1:c.-151-7595_-151-7582del - intron variant - [Sequence Ontology: SO:0001627]
• NM_203309.2:c.-72-14615_-72-14602del - intron variant - [Sequence Ontology: SO:0001627]