ClinVar

NM_021814.5(ELOVL5):c.246+3729A>C

Gene:

ELOVL5:ELOVL fatty acid elongase 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.1

Genomic location:

• Chr6: 53288047 (on Assembly GRCh38)
• Chr6: 53152845 (on Assembly GRCh37)

Preferred name:

NM_021814.5(ELOVL5):c.246+3729A>C

HGVS:

• NC_000006.12:g.53288047T>G
• NG_034263.1:g.66133A>C
• NM_001242828.2:c.247-105A>C
• NM_001242830.2:c.246+3729A>C
• NM_001301856.2:c.246+3729A>C
• NM_021814.5:c.246+3729A>CMANE SELECT
• NC_000006.11:g.53152845T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs3817960

NCBI 1000 Genomes Browser:

rs3817960

Molecular consequence:

• NM_001242828.2:c.247-105A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001242830.2:c.246+3729A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301856.2:c.246+3729A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_021814.5:c.246+3729A>C - intron variant - [Sequence Ontology: SO:0001627]