ClinVar

NM_001966.4(EHHADH):c.1563G>A (p.Val521=)

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: 185192835 (on Assembly GRCh38)
• Chr3: 184910623 (on Assembly GRCh37)

Preferred name:

NM_001966.4(EHHADH):c.1563G>A (p.Val521=)

HGVS:

• NC_000003.12:g.185192835C>T
• NG_015999.1:g.66264G>A
• NM_001166415.2:c.1275G>A
• NM_001966.3:c.1563G>A
• NM_001966.4:c.1563G>AMANE SELECT
• NP_001159887.1:p.Val425=
• NP_001957.2:p.Val521=
• NC_000003.11:g.184910623C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138858065

NCBI 1000 Genomes Browser:

rs138858065

Molecular consequence:

• NM_001166415.2:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001966.4:c.1563G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2