ClinVar

NM_001966.4(EHHADH):c.1861G>T (p.Glu621Ter)

Gene:

EHHADH:enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.2

Genomic location:

• Chr3: 185192537 (on Assembly GRCh38)
• Chr3: 184910325 (on Assembly GRCh37)

Preferred name:

NM_001966.4(EHHADH):c.1861G>T (p.Glu621Ter)

HGVS:

• NC_000003.12:g.185192537C>A
• NG_015999.1:g.66562G>T
• NM_001166415.2:c.1573G>T
• NM_001966.4:c.1861G>TMANE SELECT
• NP_001159887.1:p.Glu525Ter
• NP_001957.2:p.Glu621Ter
• NC_000003.11:g.184910325C>A

This HGVS expression did not pass validation

Protein change:

E525*

Links:

dbSNP: rs1560003719

NCBI 1000 Genomes Browser:

rs1560003719

Molecular consequence:

• NM_001166415.2:c.1573G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001966.4:c.1861G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

2