ClinVar

NM_000071.3(CBS):c.715G>T (p.Glu239Ter)

Gene:

CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43065224 (on Assembly GRCh38)
• Chr21: 44485334 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.715G>T (p.Glu239Ter)

HGVS:

• NC_000021.9:g.43065224C>A
• NG_008938.1:g.15707G>T
• NM_000071.3:c.715G>TMANE SELECT
• NM_001178008.3:c.715G>T
• NM_001178009.3:c.715G>T
• NM_001320298.2:c.715G>T
• NM_001321072.1:c.400G>T
• NP_000062.1:p.Glu239Ter
• NP_001171479.1:p.Glu239Ter
• NP_001171480.1:p.Glu239Ter
• NP_001307227.1:p.Glu239Ter
• NP_001308001.1:p.Glu134Ter
• LRG_777:g.15707G>T
• NC_000021.8:g.44485334C>A

This HGVS expression did not pass validation

Protein change:

E134*

Links:

dbSNP: rs1982493665

NCBI 1000 Genomes Browser:

rs1982493665

Molecular consequence:

• NM_000071.3:c.715G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001178008.3:c.715G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001178009.3:c.715G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001320298.2:c.715G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001321072.1:c.400G>T - nonsense - [Sequence Ontology: SO:0001587]