ClinVar

NM_001010859.1(C22orf42):c.409G>T (p.Glu137Ter)

Gene:

C22orf42:chromosome 22 open reading frame 42 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

• Chr22: 32151543 (on Assembly GRCh38)
• Chr22: 32547530 (on Assembly GRCh37)
• Chr22: 30877530 (on Assembly NCBI36)

Preferred name:

NM_001010859.1(C22orf42):c.409G>T (p.Glu137Ter)

HGVS:

• NC_000022.11:g.32151543C>A
• NM_001010859.1:c.409G>T
• NP_001010859.1:p.Glu137Ter
• NC_000022.10:g.32547530C>A
• NC_000022.9:g.30877530C>A

This HGVS expression did not pass validation

Protein change:

E137*

Links:

dbSNP: rs140211907

NCBI 1000 Genomes Browser:

rs140211907

Molecular consequence:

• NM_001010859.1:c.409G>T - nonsense - [Sequence Ontology: SO:0001587]