ClinVar

NM_000754.4(COMT):c.289+9C>T

Gene:

COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19962824 (on Assembly GRCh38)
• Chr22: 19950347 (on Assembly GRCh37)

Preferred name:

NM_000754.4(COMT):c.289+9C>T

HGVS:

• NC_000022.11:g.19962824C>T
• NG_011526.1:g.26085C>T
• NM_000754.4:c.289+9C>TMANE SELECT
• NM_001135161.2:c.289+9C>T
• NM_001135162.2:c.289+9C>T
• NM_001362828.2:c.289+9C>T
• NM_007310.3:c.139+9C>T
• LRG_1010t1:c.289+9C>T
• LRG_1010:g.26085C>T
• NC_000022.10:g.19950347C>T
• NM_000754.3:c.289+9C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs3218737

NCBI 1000 Genomes Browser:

rs3218737

Molecular consequence:

• NM_000754.4:c.289+9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001135161.2:c.289+9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001135162.2:c.289+9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001362828.2:c.289+9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007310.3:c.139+9C>T - intron variant - [Sequence Ontology: SO:0001627]