ClinVar

NM_000207.3(INS):c.*9C>T

Genes:

TH:tyrosine hydroxylase [Gene - OMIM - HGNC]
INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
INS:insulin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2159843 (on Assembly GRCh38)
• Chr11: 2181073 (on Assembly GRCh37)

Preferred name:

NM_000207.3(INS):c.*9C>T

HGVS:

• NC_000011.10:g.2159843G>A
• NG_007114.1:g.6352C>T
• NG_050578.1:g.6367C>T
• NM_000207.3:c.*9C>TMANE SELECT
• NM_001042376.3:c.187+942C>T
• NM_001185097.2:c.*9C>T
• NM_001185098.2:c.*9C>T
• NM_001291897.2:c.*9C>T
• NC_000011.9:g.2181073G>A
• NM_000207.2:c.*9C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs3842752

NCBI 1000 Genomes Browser:

rs3842752

Molecular consequence:

• NM_000207.3:c.*9C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001185097.2:c.*9C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001185098.2:c.*9C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001291897.2:c.*9C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001042376.3:c.187+942C>T - intron variant - [Sequence Ontology: SO:0001627]