ClinVar

NM_000071.3(CBS):c.228C>T (p.Ile76=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43068597 (on Assembly GRCh38)
• Chr21: 44488707 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.228C>T (p.Ile76=)

HGVS:

• NC_000021.9:g.43068597G>A
• NG_008938.1:g.12334C>T
• NM_000071.3:c.228C>TMANE SELECT
• NM_001178008.3:c.228C>T
• NM_001178009.3:c.228C>T
• NM_001320298.2:c.228C>T
• NP_000062.1:p.Ile76=
• NP_000062.1:p.Ile76=
• NP_001171479.1:p.Ile76=
• NP_001171480.1:p.Ile76=
• NP_001307227.1:p.Ile76=
• LRG_777t1:c.228C>T
• LRG_777:g.12334C>T
• LRG_777p1:p.Ile76=
• NC_000021.8:g.44488707G>A
• NM_000071.2:c.228C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1555876151

NCBI 1000 Genomes Browser:

rs1555876151

Molecular consequence:

• NM_000071.3:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178008.3:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001178009.3:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001320298.2:c.228C>T - synonymous variant - [Sequence Ontology: SO:0001819]