ClinVar

NM_000071.3(CBS):c.532-13T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43065534 (on Assembly GRCh38)
• Chr21: 44485644 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.532-13T>C

HGVS:

• NC_000021.9:g.43065534A>G
• NG_008938.1:g.15397T>C
• NM_000071.3:c.532-13T>CMANE SELECT
• NM_001178008.3:c.532-13T>C
• NM_001178009.3:c.532-13T>C
• NM_001320298.2:c.532-13T>C
• NM_001321072.1:c.217-13T>C
• LRG_777:g.15397T>C
• NC_000021.8:g.44485644A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs757869040

NCBI 1000 Genomes Browser:

rs757869040

Molecular consequence:

• NM_000071.3:c.532-13T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178008.3:c.532-13T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001178009.3:c.532-13T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320298.2:c.532-13T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321072.1:c.217-13T>C - intron variant - [Sequence Ontology: SO:0001627]