ClinVar

NM_001013435.2(PAGE5):c.213A>C (p.Gln71His)

Gene:

PAGE5:P antigen family, member 5 (prostate associated) [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.21

Genomic location:

• ChrX: 55222643 (on Assembly GRCh38)
• ChrX: 55249076 (on Assembly GRCh37)
• ChrX: 55265801 (on Assembly NCBI36)

Preferred name:

NM_001013435.2(PAGE5):c.213A>C (p.Gln71His)

HGVS:

• NC_000023.11:g.55222643A>C
• NM_001013435.2:c.213A>C
• NM_130467.4:c.273A>C
• NP_001013453.1:p.Gln71His
• NP_569734.2:p.Gln91His
• NC_000023.10:g.55249076A>C
• NC_000023.9:g.55265801A>C
• NM_001013435.1:c.213A>C
• NM_130467.3:c.273A>C

This HGVS expression did not pass validation

Protein change:

Q71H

Links:

dbSNP: rs267606486

NCBI 1000 Genomes Browser:

rs267606486

Molecular consequence:

• NM_001013435.1:c.213A>C - missense variant - [Sequence Ontology: SO:0001583]