ClinVar

NM_000126.4(ETFA):c.664+27T>A

Gene:

ETFA:electron transfer flavoprotein subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.2

Genomic location:

• Chr15: 76285610 (on Assembly GRCh38)
• Chr15: 76577951 (on Assembly GRCh37)

Preferred name:

NM_000126.4(ETFA):c.664+27T>A

HGVS:

• NC_000015.10:g.76285610A>T
• NG_007077.2:g.30860T>A
• NM_000126.4:c.664+27T>AMANE SELECT
• NM_001127716.2:c.517+27T>A
• NC_000015.9:g.76577951A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs79352238

NCBI 1000 Genomes Browser:

rs79352238

Molecular consequence:

• NM_000126.4:c.664+27T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127716.2:c.517+27T>A - intron variant - [Sequence Ontology: SO:0001627]