ClinVar

NM_000071.3(CBS):c.1058C>T (p.Thr353Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43060528 (on Assembly GRCh38)
• Chr21: 44480638 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.1058C>T (p.Thr353Met)

Other names:

p.T353M:ACG>ATG

HGVS:

• NC_000021.9:g.43060528G>A
• NG_008938.1:g.20403C>T
• NM_000071.3:c.1058C>TMANE SELECT
• NM_001178008.3:c.1058C>T
• NM_001178009.3:c.1058C>T
• NM_001320298.2:c.1058C>T
• NM_001321072.1:c.743C>T
• NP_000062.1:p.Thr353Met
• NP_001171479.1:p.Thr353Met
• NP_001171480.1:p.Thr353Met
• NP_001307227.1:p.Thr353Met
• NP_001308001.1:p.Thr248Met
• LRG_777t1:c.1058C>T
• LRG_777:g.20403C>T
• LRG_777p1:p.Thr353Met
• NC_000021.8:g.44480638G>A
• NM_000071.2:c.1058C>T
• P35520:p.Thr353Met

This HGVS expression did not pass validation

Protein change:

T248M; THR353MET

Links:

UniProtKB: P35520#VAR_008082; OMIM: 613381.0015; dbSNP: rs121964972

NCBI 1000 Genomes Browser:

rs121964972

Molecular consequence:

• NM_000071.3:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178008.3:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178009.3:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320298.2:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321072.1:c.743C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1