ClinVar

NM_000071.3(CBS):c.1526C>T (p.Ala509Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43056829 (on Assembly GRCh38)
• Chr21: 44476939 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.1526C>T (p.Ala509Val)

HGVS:

• NC_000021.9:g.43056829G>A
• NG_008938.1:g.24102C>T
• NM_000071.3:c.1526C>TMANE SELECT
• NM_001178008.3:c.1526C>T
• NM_001178009.3:c.1526C>T
• NM_001320298.2:c.1526C>T
• NM_001321072.1:c.1211C>T
• NP_000062.1:p.Ala509Val
• NP_001171479.1:p.Ala509Val
• NP_001171480.1:p.Ala509Val
• NP_001307227.1:p.Ala509Val
• NP_001308001.1:p.Ala404Val
• LRG_777:g.24102C>T
• NC_000021.8:g.44476939G>A

This HGVS expression did not pass validation

Protein change:

A404V

Links:

dbSNP: rs794727161

NCBI 1000 Genomes Browser:

rs794727161

Molecular consequence:

• NM_000071.3:c.1526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178008.3:c.1526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178009.3:c.1526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320298.2:c.1526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321072.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1