ClinVar

NM_000754.4(COMT):c.*626T>C

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: 19969362 (on Assembly GRCh38)
• Chr22: 19956885 (on Assembly GRCh37)

Preferred name:

NM_000754.4(COMT):c.*626T>C

HGVS:

• NC_000022.11:g.19969362T>C
• NG_011526.1:g.32623T>C
• NG_023326.1:g.52425A>G
• NM_000754.4:c.*626T>CMANE SELECT
• NM_001135161.2:c.*626T>C
• NM_001135162.2:c.*626T>C
• NM_001362828.2:c.*626T>C
• NM_007310.3:c.*626T>C
• LRG_1010:g.32623T>C
• NC_000022.10:g.19956885T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs35478083

NCBI 1000 Genomes Browser:

rs35478083

Molecular consequence:

• NM_000754.4:c.*626T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001135161.2:c.*626T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001135162.2:c.*626T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001362828.2:c.*626T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_007310.3:c.*626T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]