ClinVar

NM_018955.4(UBB):c.567C>T (p.Pro189=)

Gene:

UBB:ubiquitin B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 16382474 (on Assembly GRCh38)
• Chr17: 16285788 (on Assembly GRCh37)

Preferred name:

NM_018955.4(UBB):c.567C>T (p.Pro189=)

HGVS:

• NC_000017.11:g.16382474C>T
• NG_023320.1:g.6422C>T
• NM_001281716.2:c.567C>T
• NM_001281717.1:c.567C>T
• NM_001281718.1:c.567C>T
• NM_001281719.1:c.567C>T
• NM_001281720.2:c.567C>T
• NM_018955.4:c.567C>TMANE SELECT
• NP_001268645.1:p.Pro189=
• NP_001268645.1:p.Pro189=
• NP_001268646.1:p.Pro189=
• NP_001268647.1:p.Pro189=
• NP_001268648.1:p.Pro189=
• NP_001268649.1:p.Pro189=
• NP_061828.1:p.Pro189=
• NC_000017.10:g.16285788C>T
• NM_001281716.1:c.567C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs759167895

NCBI 1000 Genomes Browser:

rs759167895

Molecular consequence:

• NM_001281716.2:c.567C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281717.1:c.567C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281718.1:c.567C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281719.1:c.567C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281720.2:c.567C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018955.4:c.567C>T - synonymous variant - [Sequence Ontology: SO:0001819]