ClinVar

NM_005327.7(HADH):c.340G>T (p.Asp114Tyr)

Gene:

HADH:hydroxyacyl-CoA dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

• Chr4: 108014509 (on Assembly GRCh38)
• Chr4: 108935665 (on Assembly GRCh37)

Preferred name:

NM_005327.7(HADH):c.340G>T (p.Asp114Tyr)

HGVS:

• NC_000004.12:g.108014509G>T
• NG_008156.2:g.29726G>T
• NG_008156.3:g.29622G>T
• NM_001184705.4:c.340G>T
• NM_001331027.2:c.352G>T
• NM_005327.7:c.340G>TMANE SELECT
• NP_001171634.3:p.Asp114Tyr
• NP_001317956.2:p.Asp118Tyr
• NP_005318.6:p.Asp114Tyr
• NC_000004.11:g.108935665G>T
• NM_001184705.2:c.340G>T

This HGVS expression did not pass validation

Protein change:

D114Y

Molecular consequence:

• NM_001184705.4:c.340G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001331027.2:c.352G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005327.7:c.340G>T - missense variant - [Sequence Ontology: SO:0001583]