ClinVar

NM_000071.3(CBS):c.717G>A (p.Glu239=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43065222 (on Assembly GRCh38)
• Chr21: 44485332 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.717G>A (p.Glu239=)

HGVS:

• NC_000021.9:g.43065222C>T
• NG_008938.1:g.15709G>A
• NM_000071.3:c.717G>AMANE SELECT
• NM_001178008.3:c.717G>A
• NM_001178009.3:c.717G>A
• NM_001320298.2:c.717G>A
• NM_001321072.1:c.402G>A
• NP_000062.1:p.Glu239=
• NP_001171479.1:p.Glu239=
• NP_001171480.1:p.Glu239=
• NP_001307227.1:p.Glu239=
• NP_001308001.1:p.Glu134=
• LRG_777t1:c.717G>A
• LRG_777:g.15709G>A
• NC_000021.8:g.44485332C>T
• NM_000071.2:c.717G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs372797469

NCBI 1000 Genomes Browser:

rs372797469

Molecular consequence:

• NM_000071.3:c.717G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178008.3:c.717G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178009.3:c.717G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320298.2:c.717G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321072.1:c.402G>A - synonymous variant - [Sequence Ontology: SO:0001819]