ClinVar

NM_000071.3(CBS):c.700G>A (p.Asp234Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43065239 (on Assembly GRCh38)
• Chr21: 44485349 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.700G>A (p.Asp234Asn)

Other names:

p.D234N:GAC>AAC

HGVS:

• NC_000021.9:g.43065239C>T
• NG_008938.1:g.15692G>A
• NM_000071.3:c.700G>AMANE SELECT
• NM_001178008.3:c.700G>A
• NM_001178009.3:c.700G>A
• NM_001320298.2:c.700G>A
• NM_001321072.1:c.385G>A
• NP_000062.1:p.Asp234Asn
• NP_000062.1:p.Asp234Asn
• NP_001171479.1:p.Asp234Asn
• NP_001171480.1:p.Asp234Asn
• NP_001307227.1:p.Asp234Asn
• NP_001308001.1:p.Asp129Asn
• LRG_777t1:c.700G>A
• LRG_777:g.15692G>A
• LRG_777p1:p.Asp234Asn
• NC_000021.8:g.44485349C>T
• NM_000071.2:c.700G>A
• P35520:p.Asp234Asn

This HGVS expression did not pass validation

Protein change:

D129N

Links:

UniProtKB: P35520#VAR_008071; dbSNP: rs773734233

NCBI 1000 Genomes Browser:

rs773734233

Molecular consequence:

• NM_000071.3:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178008.3:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178009.3:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320298.2:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321072.1:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]