ClinVar

NM_000182.5(HADHA):c.1086-12C>T

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: 26204208 (on Assembly GRCh38)
• Chr2: 26427077 (on Assembly GRCh37)

Preferred name:

NM_000182.5(HADHA):c.1086-12C>T

HGVS:

• NC_000002.12:g.26204208G>A
• NG_007121.2:g.45414C>T
• NM_000182.5:c.1086-12C>TMANE SELECT
• LRG_747t1:c.1086-12C>T
• LRG_747:g.45414C>T
• NC_000002.11:g.26427077G>A
• NG_007121.1:g.45413C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs767692992

NCBI 1000 Genomes Browser:

rs767692992

Molecular consequence:

• NM_000182.5:c.1086-12C>T - intron variant - [Sequence Ontology: SO:0001627]