ClinVar

NM_001199298.2(UIMC1):c.999G>T (p.Gln333His)

Gene:

UIMC1:ubiquitin interaction motif containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.2

Genomic location:

• Chr5: 176968756 (on Assembly GRCh38)
• Chr5: 176395757 (on Assembly GRCh37)

Preferred name:

NM_001199298.2(UIMC1):c.999G>T (p.Gln333His)

HGVS:

• NC_000005.10:g.176968756C>A
• NM_001199297.2:c.999G>T
• NM_001199298.2:c.999G>TMANE SELECT
• NM_001317961.1:c.702+297G>T
• NM_016290.4:c.999G>T
• NP_001186226.1:p.Gln333His
• NP_001186227.1:p.Gln333His
• NP_057374.3:p.Gln333His
• NC_000005.9:g.176395757C>A
• NR_146149.1:n.1152G>T
• NR_146150.1:n.1152G>T

This HGVS expression did not pass validation

Protein change:

Q333H

Molecular consequence:

• NM_001317961.1:c.702+297G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199297.2:c.999G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199298.2:c.999G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016290.4:c.999G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_146149.1:n.1152G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146150.1:n.1152G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]