ClinVar

NM_000071.3(CBS):c.1552+201G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43056602 (on Assembly GRCh38)
• Chr21: 44476712 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.1552+201G>A

HGVS:

• NC_000021.9:g.43056602C>T
• NG_008938.1:g.24329G>A
• NM_000071.3:c.1552+201G>AMANE SELECT
• NM_001178008.3:c.1552+201G>A
• NM_001178009.3:c.1552+201G>A
• NM_001320298.2:c.1552+201G>A
• NM_001321072.1:c.1237+201G>A
• LRG_777:g.24329G>A
• NC_000021.8:g.44476712C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138874126

NCBI 1000 Genomes Browser:

rs138874126

Molecular consequence:

• NM_000071.3:c.1552+201G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178008.3:c.1552+201G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178009.3:c.1552+201G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320298.2:c.1552+201G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321072.1:c.1237+201G>A - intron variant - [Sequence Ontology: SO:0001627]