ClinVar

NM_000018.4(ACADVL):c.1434+38G>C

Gene:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224107 (on Assembly GRCh38)
• Chr17: 7127426 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1434+38G>C

HGVS:

• NC_000017.11:g.7224107G>C
• NG_007975.1:g.9274G>C
• NG_008391.2:g.944C>G
• NG_033038.1:g.15438C>G
• NM_000018.4:c.1434+38G>CMANE SELECT
• NM_001033859.3:c.1368+38G>C
• NM_001270447.2:c.1503+38G>C
• NM_001270448.2:c.1206+38G>C
• NC_000017.10:g.7127426G>C
• NM_000018.3:c.1434+38G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs763704056

NCBI 1000 Genomes Browser:

rs763704056

Molecular consequence:

• NM_000018.4:c.1434+38G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001033859.3:c.1368+38G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270447.2:c.1503+38G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001270448.2:c.1206+38G>C - intron variant - [Sequence Ontology: SO:0001627]