ClinVar

NM_001966.4(EHHADH):c.1210G>A (p.Ala404Thr)

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: 185193188 (on Assembly GRCh38)
• Chr3: 184910976 (on Assembly GRCh37)

Preferred name:

NM_001966.4(EHHADH):c.1210G>A (p.Ala404Thr)

HGVS:

• NC_000003.12:g.185193188C>T
• NG_015999.1:g.65911G>A
• NM_001166415.2:c.922G>A
• NM_001966.4:c.1210G>AMANE SELECT
• NP_001159887.1:p.Ala308Thr
• NP_001957.2:p.Ala404Thr
• NC_000003.11:g.184910976C>T

This HGVS expression did not pass validation

Protein change:

A308T

Links:

dbSNP: rs1560004418

NCBI 1000 Genomes Browser:

rs1560004418

Molecular consequence:

• NM_001166415.2:c.922G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001966.4:c.1210G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1