ClinVar

NM_152709.5(STOX1):c.53G>C (p.Arg18Pro)

Genes:

LOC130003952:ATAC-STARR-seq lymphoblastoid silent region 2422 [Gene]
STOX1:storkhead box 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 68827676 (on Assembly GRCh38)
• Chr10: 70587433 (on Assembly GRCh37)

Preferred name:

NM_152709.5(STOX1):c.53G>C (p.Arg18Pro)

HGVS:

• NC_000010.11:g.68827676G>C
• NG_012975.2:g.5140G>C
• NG_183398.1:g.424G>C
• NM_001130159.3:c.53G>C
• NM_001130160.3:c.53G>C
• NM_001130161.4:c.53G>C
• NM_152709.5:c.53G>CMANE SELECT
• NP_001123631.1:p.Arg18Pro
• NP_001123632.1:p.Arg18Pro
• NP_001123633.1:p.Arg18Pro
• NP_689922.3:p.Arg18Pro
• NC_000010.10:g.70587433G>C

This HGVS expression did not pass validation

Protein change:

R18P

Molecular consequence:

• NM_001130159.3:c.53G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130160.3:c.53G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001130161.4:c.53G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_152709.5:c.53G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1