ClinVar

NM_001243279.3(ACSF3):c.1127-9C>T

Gene:

ACSF3:acyl-CoA synthetase family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89120792 (on Assembly GRCh38)
• Chr16: 89187200 (on Assembly GRCh37)

Preferred name:

NM_001243279.3(ACSF3):c.1127-9C>T

HGVS:

• NC_000016.10:g.89120792C>T
• NG_031961.1:g.31984C>T
• NM_001127214.4:c.1127-9C>T
• NM_001243279.3:c.1127-9C>TMANE SELECT
• NM_001284316.2:c.332-9C>T
• NM_174917.5:c.1127-9C>T
• NC_000016.9:g.89187200C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs536593488

NCBI 1000 Genomes Browser:

rs536593488

Molecular consequence:

• NM_001127214.4:c.1127-9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243279.3:c.1127-9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001284316.2:c.332-9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_174917.5:c.1127-9C>T - intron variant - [Sequence Ontology: SO:0001627]