ClinVar

NM_000071.3(CBS):c.266T>A (p.Met89Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43068559 (on Assembly GRCh38)
• Chr21: 44488669 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.266T>A (p.Met89Lys)

HGVS:

• NC_000021.9:g.43068559A>T
• NG_008938.1:g.12372T>A
• NM_000071.2:c.266T>A
• NM_000071.3:c.266T>AMANE SELECT
• NM_001178008.3:c.266T>A
• NM_001178009.3:c.266T>A
• NM_001320298.2:c.266T>A
• NP_000062.1:p.Met89Lys
• NP_001171479.1:p.Met89Lys
• NP_001171480.1:p.Met89Lys
• NP_001307227.1:p.Met89Lys
• LRG_777:g.12372T>A
• NC_000021.8:g.44488669A>T

This HGVS expression did not pass validation

Protein change:

M89K

Links:

dbSNP: rs772450760

NCBI 1000 Genomes Browser:

rs772450760

Molecular consequence:

• NM_000071.3:c.266T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178008.3:c.266T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178009.3:c.266T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320298.2:c.266T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2