ClinVar

NM_000182.5(HADHA):c.1220+329G>A

Genes:

GAREM2:GRB2 associated regulator of MAPK1 subtype 2 [Gene - OMIM - HGNC]
HADHA:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26203733 (on Assembly GRCh38)
• Chr2: 26426602 (on Assembly GRCh37)

Preferred name:

NM_000182.5(HADHA):c.1220+329G>A

HGVS:

• NC_000002.12:g.26203733C>T
• NG_007121.2:g.45889G>A
• NM_000182.5:c.1220+329G>AMANE SELECT
• LRG_747t1:c.1220+329G>A
• LRG_747:g.45889G>A
• NC_000002.11:g.26426602C>T
• NG_007121.1:g.45888G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs79319295

NCBI 1000 Genomes Browser:

rs79319295

Molecular consequence:

• NM_000182.5:c.1220+329G>A - intron variant - [Sequence Ontology: SO:0001627]