ClinVar

NM_000181.4(GUSB):c.1911C>T (p.His637=)

Gene:

GUSB:glucuronidase beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.21

Genomic location:

• Chr7: 65960942 (on Assembly GRCh38)
• Chr7: 65425929 (on Assembly GRCh37)

Preferred name:

NM_000181.4(GUSB):c.1911C>T (p.His637=)

HGVS:

• NC_000007.14:g.65960942G>A
• NG_016197.1:g.26373C>T
• NG_051954.1:g.92844G>A
• NG_051954.2:g.100172G>A
• NM_000181.4:c.1911C>TMANE SELECT
• NM_001284290.2:c.1473C>T
• NM_001293104.2:c.1341C>T
• NM_001293105.2:c.1254C>T
• NP_000172.2:p.His637=
• NP_001271219.1:p.His491=
• NP_001280033.1:p.His447=
• NP_001280034.1:p.His418=
• NC_000007.13:g.65425929G>A
• NR_120531.2:n.1856C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_120531.2:n.1856C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000181.4:c.1911C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001284290.2:c.1473C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001293104.2:c.1341C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001293105.2:c.1254C>T - synonymous variant - [Sequence Ontology: SO:0001819]