ClinVar

NM_006883.2(SHOX):c.*38C>T

Gene:

SHOX:SHOX homeobox [Gene - OMIM - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.33

Genomic location:

• ChrX: 658867 (on Assembly GRCh38)
• ChrY: 658867 (on Assembly GRCh38)
• ChrX: 619602 (on Assembly GRCh37)
• ChrY: 569602 (on Assembly GRCh37)

Preferred name:

NM_006883.2(SHOX):c.*38C>T

HGVS:

• NC_000023.11:g.658867C>T
• NC_000024.10:g.658867C>T
• NG_009385.2:g.39524C>T
• NM_006883.2:c.*38C>T
• LRG_710t2:c.*38C>T
• LRG_710:g.39524C>T
• NC_000023.10:g.619602C>T
• NC_000024.9:g.569602C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs188372244

NCBI 1000 Genomes Browser:

rs188372244

Molecular consequence:

• NM_006883.2:c.*38C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]