ClinVar

NM_001966.4(EHHADH):c.2094A>G (p.Leu698=)

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: 185192304 (on Assembly GRCh38)
• Chr3: 184910092 (on Assembly GRCh37)

Preferred name:

NM_001966.4(EHHADH):c.2094A>G (p.Leu698=)

HGVS:

• NC_000003.12:g.185192304T>C
• NG_015999.1:g.66795A>G
• NM_001166415.2:c.1806A>G
• NM_001966.3:c.2094A>G
• NM_001966.4:c.2094A>GMANE SELECT
• NP_001159887.1:p.Leu602=
• NP_001957.2:p.Leu698=
• NC_000003.11:g.184910092T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs370130327

NCBI 1000 Genomes Browser:

rs370130327

Molecular consequence:

• NM_001166415.2:c.1806A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001966.4:c.2094A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2