ClinVar

NM_000444.6(PHEX):c.244C>T (p.Arg82Trp)

Gene:

PHEX:phosphate regulating endopeptidase X-linked [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.11

Genomic location:

• ChrX: 22047106 (on Assembly GRCh38)
• ChrX: 22065224 (on Assembly GRCh37)

Preferred name:

NM_000444.6(PHEX):c.244C>T (p.Arg82Trp)

HGVS:

• NC_000023.11:g.22047106C>T
• NG_007563.2:g.19304C>T
• NG_007563.3:g.19783C>T
• NM_000444.4:c.244C>T
• NM_000444.6:c.244C>TMANE SELECT
• NM_001282754.2:c.244C>T
• NP_000435.3:p.Arg82Trp
• NP_001269683.1:p.Arg82Trp
• NC_000023.10:g.22065224C>T

This HGVS expression did not pass validation

Protein change:

R82W

Molecular consequence:

• NM_000444.6:c.244C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282754.2:c.244C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1