ClinVar

NM_000754.4(COMT):c.*1134A>T

Genes:

ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

• Chr22: 19969870 (on Assembly GRCh38)
• Chr22: 19957393 (on Assembly GRCh37)

Preferred name:

NM_000754.4(COMT):c.*1134A>T

HGVS:

• NC_000022.11:g.19969870A>T
• NG_011526.1:g.33131A>T
• NG_023326.1:g.51917T>A
• NM_000754.4:c.*1134A>TMANE SELECT
• NM_001135161.2:c.*1134A>T
• NM_001135162.2:c.*1134A>T
• NM_001362828.2:c.*1134A>T
• NM_007310.3:c.*1134A>T
• LRG_1010:g.33131A>T
• NC_000022.10:g.19957393A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1601553380

NCBI 1000 Genomes Browser:

rs1601553380

Molecular consequence:

• NM_000754.4:c.*1134A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001135161.2:c.*1134A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001135162.2:c.*1134A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001362828.2:c.*1134A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_007310.3:c.*1134A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]