ClinVar

NM_005861.4(STUB1):c.553G>A (p.Glu185Lys)

Genes:

STUB1:STIP1 homology and U-box containing protein 1 [Gene - OMIM - HGNC]
JMJD8:jumonji domain containing 8 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 681821 (on Assembly GRCh38)
• Chr16: 731821 (on Assembly GRCh37)

Preferred name:

NM_005861.4(STUB1):c.553G>A (p.Glu185Lys)

HGVS:

• NC_000016.10:g.681821G>A
• NG_034141.1:g.6711G>A
• NG_132622.1:g.733G>A
• NG_132622.2:g.753G>A
• NG_132623.1:g.145G>A
• NM_001005920.4:c.*973C>TMANE SELECT
• NM_001293197.2:c.337G>A
• NM_001323918.3:c.*1007C>T
• NM_001323919.3:c.*973C>T
• NM_001323920.3:c.*973C>T
• NM_001323922.3:c.*1007C>T
• NM_005861.4:c.553G>AMANE SELECT
• NP_001280126.1:p.Glu113Lys
• NP_005852.2:p.Glu185Lys
• NC_000016.9:g.731821G>A
• NM_005861.2:c.553G>A
• NM_005861.4:c.553G>A
• NR_136650.3:n.1866C>T
• NR_136651.3:n.1871C>T
• NR_136652.3:n.1781C>T

This HGVS expression did not pass validation

Protein change:

E113K

Molecular consequence:

• NM_001005920.4:c.*973C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001323918.3:c.*1007C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001323919.3:c.*973C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001323920.3:c.*973C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001323922.3:c.*1007C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001293197.2:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005861.4:c.553G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_136650.3:n.1866C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136651.3:n.1871C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136652.3:n.1781C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]