ClinVar

NM_000071.3(CBS):c.736+5G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43065198 (on Assembly GRCh38)
• Chr21: 44485308 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.736+5G>A

HGVS:

• NC_000021.9:g.43065198C>T
• NG_008938.1:g.15733G>A
• NM_000071.3:c.736+5G>AMANE SELECT
• NM_001178008.3:c.736+5G>A
• NM_001178009.3:c.736+5G>A
• NM_001320298.2:c.736+5G>A
• NM_001321072.1:c.421+5G>A
• LRG_777t1:c.736+5G>A
• LRG_777:g.15733G>A
• NC_000021.8:g.44485308C>T
• NM_000071.2:c.736+5G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs750518463

NCBI 1000 Genomes Browser:

rs750518463

Molecular consequence:

• NM_000071.3:c.736+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178008.3:c.736+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178009.3:c.736+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320298.2:c.736+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321072.1:c.421+5G>A - intron variant - [Sequence Ontology: SO:0001627]