ClinVar

NM_024930.3(ELOVL7):c.572C>A (p.Ser191Tyr)

Gene:

ELOVL7:ELOVL fatty acid elongase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q12.1

Genomic location:

• Chr5: 60757573 (on Assembly GRCh38)
• Chr5: 60053400 (on Assembly GRCh37)

Preferred name:

NM_024930.3(ELOVL7):c.572C>A (p.Ser191Tyr)

HGVS:

• NC_000005.10:g.60757573G>T
• NM_001104558.2:c.572C>A
• NM_001297617.2:c.533C>A
• NM_001297618.2:c.311C>A
• NM_024930.3:c.572C>AMANE SELECT
• NP_001098028.1:p.Ser191Tyr
• NP_001284546.1:p.Ser178Tyr
• NP_001284547.1:p.Ser104Tyr
• NP_079206.2:p.Ser191Tyr
• NC_000005.9:g.60053400G>T
• NM_024930.2:c.572C>A

This HGVS expression did not pass validation

Protein change:

S104Y

Molecular consequence:

• NM_001104558.2:c.572C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297617.2:c.533C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297618.2:c.311C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024930.3:c.572C>A - missense variant - [Sequence Ontology: SO:0001583]