ClinVar

NM_001160305.4(SETD6):c.481G>A (p.Glu161Lys)

Genes:

LOC130059146:ATAC-STARR-seq lymphoblastoid active region 10930 [Gene]
SETD6:SET domain containing 6, protein lysine methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

• Chr16: 58516482 (on Assembly GRCh38)
• Chr16: 58550386 (on Assembly GRCh37)

Preferred name:

NM_001160305.4(SETD6):c.481G>A (p.Glu161Lys)

HGVS:

• NC_000016.10:g.58516482G>A
• NG_193567.1:g.181G>A
• NM_001160305.4:c.481G>AMANE SELECT
• NM_024860.3:c.409G>A
• NP_001153777.1:p.Glu161Lys
• NP_079136.2:p.Glu137Lys
• NC_000016.9:g.58550386G>A
• NR_134583.1:n.468G>A

This HGVS expression did not pass validation

Protein change:

E137K

Molecular consequence:

• NM_001160305.4:c.481G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024860.3:c.409G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_134583.1:n.468G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2