ClinVar

NM_000451.4(SHOX):c.439C>A (p.Arg147Ser)

Genes:

SHOX:SHOX homeobox [Gene - OMIM - OMIM - HGNC]
LOC107652445:meiotic recombination hotspot SHOX [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.33

Genomic location:

• ChrX: 634779 (on Assembly GRCh38)
• ChrY: 634779 (on Assembly GRCh38)
• ChrX: 595514 (on Assembly GRCh37)
• ChrY: 545514 (on Assembly GRCh37)

Preferred name:

NM_000451.4(SHOX):c.439C>A (p.Arg147Ser)

HGVS:

• NC_000023.11:g.634779C>A
• NC_000024.10:g.634779C>A
• NG_009385.2:g.15436C>A
• NG_046891.1:g.1827C>A
• NM_000451.4:c.439C>AMANE SELECT
• NM_006883.2:c.439C>A
• NP_000442.1:p.Arg147Ser
• NP_006874.1:p.Arg147Ser
• LRG_710t1:c.439C>A
• LRG_710t2:c.439C>A
• LRG_710:g.15436C>A
• LRG_710p1:p.Arg147Ser
• LRG_710p2:p.Arg147Ser
• NC_000023.10:g.595514C>A
• NC_000024.9:g.545514C>A
• NM_000451.3:c.439C>A

This HGVS expression did not pass validation

Protein change:

R147S

Links:

dbSNP: rs2124165990

NCBI 1000 Genomes Browser:

rs2124165990

Molecular consequence:

• NM_000451.4:c.439C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006883.2:c.439C>A - missense variant - [Sequence Ontology: SO:0001583]