ClinVar

NM_000183.3(HADHB):c.210-1G>C

Gene:

HADHB:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26269952 (on Assembly GRCh38)
• Chr2: 26492820 (on Assembly GRCh37)

Preferred name:

NM_000183.3(HADHB):c.210-1G>C

HGVS:

• NC_000002.12:g.26269952G>C
• NG_007294.1:g.30000G>C
• NM_000183.3:c.210-1G>CMANE SELECT
• NM_001281512.2:c.210-3699G>C
• NM_001281513.2:c.144-1G>C
• NC_000002.11:g.26492820G>C
• NM_000183.2:c.210-1G>C

This HGVS expression did not pass validation

Nucleotide change:

IVS4AS, G-C, -1

Links:

OMIM: 143450.0010; dbSNP: rs200777054

NCBI 1000 Genomes Browser:

rs200777054

Molecular consequence:

• NM_001281512.2:c.210-3699G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000183.3:c.210-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001281513.2:c.144-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]