ClinVar

NC_000022.11:g.23765747C>T

Genes:

CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.23

Genomic location:

• Chr22: 23765747 (on Assembly GRCh38)
• Chr22: 24107934 (on Assembly GRCh37)

Preferred name:

NC_000022.11:g.23765747C>T

HGVS:

• NC_000022.11:g.23765747C>T
• NG_034223.1:g.7226G>A
• NM_001331041.2:c.467C>T
• NM_001376903.1:c.*19C>T
• NM_001376904.1:c.*19C>T
• NM_001376905.1:c.*15C>T
• NM_182520.3:c.*15C>TMANE SELECT
• NP_001317970.1:p.Thr156Ile
• NC_000022.10:g.24107934C>T

This HGVS expression did not pass validation

Protein change:

T156I

Links:

dbSNP: rs1054055

NCBI 1000 Genomes Browser:

rs1054055

Molecular consequence:

• NM_001376903.1:c.*19C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001376904.1:c.*19C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001376905.1:c.*15C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_182520.3:c.*15C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001331041.2:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]