ClinVar

NM_000071.3(CBS):c.572C>T (p.Thr191Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43065481 (on Assembly GRCh38)
• Chr21: 44485591 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.572C>T (p.Thr191Met)

Other names:

p.T191M:ACG>ATG

HGVS:

• NC_000021.9:g.43065481G>A
• NG_008938.1:g.15450C>T
• NM_000071.3:c.572C>TMANE SELECT
• NM_001178008.3:c.572C>T
• NM_001178009.3:c.572C>T
• NM_001320298.2:c.572C>T
• NM_001321072.1:c.257C>T
• NP_000062.1:p.Thr191Met
• NP_000062.1:p.Thr191Met
• NP_001171479.1:p.Thr191Met
• NP_001171480.1:p.Thr191Met
• NP_001307227.1:p.Thr191Met
• NP_001308001.1:p.Thr86Met
• LRG_777t1:c.572C>T
• LRG_777:g.15450C>T
• LRG_777p1:p.Thr191Met
• NC_000021.8:g.44485591G>A
• NM_000071.2:c.572C>T
• P35520:p.Thr191Met

This HGVS expression did not pass validation

Protein change:

T191M; THR191MET

Links:

UniProtKB: P35520#VAR_008068; OMIM: 613381.0016; dbSNP: rs121964973

NCBI 1000 Genomes Browser:

rs121964973

Molecular consequence:

• NM_000071.3:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178008.3:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178009.3:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320298.2:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321072.1:c.257C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1