ClinVar

NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)

Gene:

ALG8:ALG8 alpha-1,3-glucosyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q14.1

Genomic location:

• Chr11: 78119193 (on Assembly GRCh38)
• Chr11: 77830239 (on Assembly GRCh37)

Preferred name:

NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)

Other names:

p.Arg179*

HGVS:

• NC_000011.10:g.78119193G>A
• NG_008926.1:g.25461C>T
• NM_001007027.3:c.535C>T
• NM_024079.4:c.[535C>T]
• NM_024079.5:c.535C>TMANE SELECT
• NP_001007028.1:p.Arg179Ter
• NP_076984.2:p.Arg179Ter
• NC_000011.9:g.77830239G>A
• NM_024079.4:c.535C>T
• NM_024079.4:c.[535C>T]
• NM_024079.5:c.535C>T

This HGVS expression did not pass validation

Protein change:

R179*; ARG179TER

Links:

OMIM: 608103.0009; dbSNP: rs762811727

NCBI 1000 Genomes Browser:

rs762811727

Molecular consequence:

• NM_001007027.3:c.535C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_024079.5:c.535C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1