ClinVar

NM_000071.3(CBS):c.1580G>A (p.Arg527Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43053956 (on Assembly GRCh38)
• Chr21: 44474066 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.1580G>A (p.Arg527Gln)

HGVS:

• NC_000021.9:g.43053956C>T
• NG_008938.1:g.26975G>A
• NM_000071.3:c.1580G>AMANE SELECT
• NM_001178008.3:c.1580G>A
• NM_001178009.3:c.1580G>A
• NM_001320298.2:c.1580G>A
• NM_001321072.1:c.1265G>A
• NP_000062.1:p.Arg527Gln
• NP_001171479.1:p.Arg527Gln
• NP_001171480.1:p.Arg527Gln
• NP_001307227.1:p.Arg527Gln
• NP_001308001.1:p.Arg422Gln
• LRG_777t1:c.1580G>A
• LRG_777:g.26975G>A
• NC_000021.8:g.44474066C>T
• NM_000071.2:c.1580G>A

This HGVS expression did not pass validation

Protein change:

R422Q

Links:

dbSNP: rs551198487

NCBI 1000 Genomes Browser:

rs551198487

Molecular consequence:

• NM_000071.3:c.1580G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178008.3:c.1580G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178009.3:c.1580G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320298.2:c.1580G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321072.1:c.1265G>A - missense variant - [Sequence Ontology: SO:0001583]