ClinVar

NM_001042406.2(HMGCLL1):c.880G>A (p.Glu294Lys)

Gene:

HMGCLL1:3-hydroxy-3-methylglutaryl-CoA lyase like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p12.1

Genomic location:

• Chr6: 55439475 (on Assembly GRCh38)
• Chr6: 55304273 (on Assembly GRCh37)

Preferred name:

NM_001042406.2(HMGCLL1):c.880G>A (p.Glu294Lys)

HGVS:

• NC_000006.12:g.55439475C>T
• NM_001042406.2:c.880G>AMANE SELECT
• NM_001287741.2:c.784G>A
• NM_001287746.2:c.583G>A
• NM_001287753.2:c.571G>A
• NM_019036.3:c.970G>A
• NP_001035865.1:p.Glu294Lys
• NP_001274670.1:p.Glu262Lys
• NP_001274675.1:p.Glu195Lys
• NP_001274682.1:p.Glu191Lys
• NP_061909.2:p.Glu324Lys
• NC_000006.11:g.55304273C>T
• NM_019036.2:c.970G>A
• NR_109869.2:n.519G>A

This HGVS expression did not pass validation

Protein change:

E191K

Molecular consequence:

• NM_001042406.2:c.880G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287741.2:c.784G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287746.2:c.583G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287753.2:c.571G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019036.3:c.970G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_109869.2:n.519G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]