ClinVar

NM_000071.3(CBS):c.770C>T (p.Thr257Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43063958 (on Assembly GRCh38)
• Chr21: 44484068 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.770C>T (p.Thr257Met)

Other names:

p.T257M:ACG>ATG

HGVS:

• NC_000021.9:g.43063958G>A
• NG_008938.1:g.16973C>T
• NM_000071.3:c.770C>TMANE SELECT
• NM_001178008.3:c.770C>T
• NM_001178009.3:c.770C>T
• NM_001320298.2:c.770C>T
• NM_001321072.1:c.455C>T
• NP_000062.1:p.Thr257Met
• NP_000062.1:p.Thr257Met
• NP_001171479.1:p.Thr257Met
• NP_001171480.1:p.Thr257Met
• NP_001307227.1:p.Thr257Met
• NP_001308001.1:p.Thr152Met
• LRG_777t1:c.770C>T
• LRG_777:g.16973C>T
• LRG_777p1:p.Thr257Met
• NC_000021.8:g.44484068G>A
• NM_000071.2:c.770C>T
• P35520:p.Thr257Met

This HGVS expression did not pass validation

Protein change:

T152M

Links:

UniProtKB: P35520#VAR_002183; dbSNP: rs758236584

NCBI 1000 Genomes Browser:

rs758236584

Molecular consequence:

• NM_000071.3:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178008.3:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178009.3:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320298.2:c.770C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321072.1:c.455C>T - missense variant - [Sequence Ontology: SO:0001583]