ClinVar

NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)

Gene:

GUSB:glucuronidase beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.21

Genomic location:

• Chr7: 65974701 (on Assembly GRCh38)
• Chr7: 65439688 (on Assembly GRCh37)

Preferred name:

NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)

Other names:

R356*

HGVS:

• NC_000007.14:g.65974701G>A
• NG_016197.1:g.12614C>T
• NM_000181.4:c.1069C>TMANE SELECT
• NM_001284290.2:c.631C>T
• NM_001293104.2:c.499C>T
• NM_001293105.2:c.412C>T
• NP_000172.2:p.Arg357Ter
• NP_001271219.1:p.Arg211Ter
• NP_001280033.1:p.Arg167Ter
• NP_001280034.1:p.Arg138Ter
• NC_000007.13:g.65439688G>A
• NM_000181.3:c.1069C>T
• NR_120531.2:n.1099C>T

This HGVS expression did not pass validation

Protein change:

R138*; ARG356TER

Links:

OMIM: 611499.0016; dbSNP: rs121918185

NCBI 1000 Genomes Browser:

rs121918185

Molecular consequence:

• NR_120531.2:n.1099C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000181.4:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001284290.2:c.631C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001293104.2:c.499C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001293105.2:c.412C>T - nonsense - [Sequence Ontology: SO:0001587]