ClinVar

NM_000071.3(CBS):c.5C>T (p.Pro2Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 43072189 (on Assembly GRCh38)
• Chr21: 44492299 (on Assembly GRCh37)

Preferred name:

NM_000071.3(CBS):c.5C>T (p.Pro2Leu)

Other names:

p.P2L:CCT>CTT

HGVS:

• NC_000021.9:g.43072189G>A
• NG_008938.1:g.8742C>T
• NM_000071.3:c.5C>TMANE SELECT
• NM_001178008.3:c.5C>T
• NM_001178009.3:c.5C>T
• NM_001320298.2:c.5C>T
• NP_000062.1:p.Pro2Leu
• NP_000062.1:p.Pro2Leu
• NP_001171479.1:p.Pro2Leu
• NP_001171480.1:p.Pro2Leu
• NP_001307227.1:p.Pro2Leu
• LRG_777t1:c.5C>T
• LRG_777:g.8742C>T
• LRG_777p1:p.Pro2Leu
• NC_000021.8:g.44492299G>A
• NM_000071.2:c.5C>T

This HGVS expression did not pass validation

Protein change:

P2L

Links:

dbSNP: rs546530618

NCBI 1000 Genomes Browser:

rs546530618

Molecular consequence:

• NM_000071.3:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178008.3:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001178009.3:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001320298.2:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]