ClinVar

NM_001032382.2(PQBP1):c.563C>T (p.Pro188Leu)

Gene:

PQBP1:polyglutamine binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48902503 (on Assembly GRCh38)
• ChrX: 48759780 (on Assembly GRCh37)

Preferred name:

NM_001032382.2(PQBP1):c.563C>T (p.Pro188Leu)

HGVS:

• NC_000023.11:g.48902503C>T
• NG_015967.1:g.9586C>T
• NG_015968.2:g.647G>A
• NG_034300.1:g.14456G>A
• NM_001032381.2:c.563C>T
• NM_001032382.2:c.563C>TMANE SELECT
• NM_001032383.2:c.563C>T
• NM_001032384.1:c.563C>T
• NM_001167989.2:c.563C>T
• NM_001167990.2:c.539C>T
• NM_001167992.1:c.263C>T
• NM_005710.2:c.563C>T
• NM_144495.3:c.293-229C>T
• NP_001027553.1:p.Pro188Leu
• NP_001027554.1:p.Pro188Leu
• NP_001027555.1:p.Pro188Leu
• NP_001027556.1:p.Pro188Leu
• NP_001161461.1:p.Pro188Leu
• NP_001161462.1:p.Pro180Leu
• NP_001161464.1:p.Pro88Leu
• NP_005701.1:p.Pro188Leu
• NC_000023.10:g.48759780C>T

This HGVS expression did not pass validation

Protein change:

P180L

Links:

dbSNP: rs797044734

NCBI 1000 Genomes Browser:

rs797044734

Molecular consequence:

• NM_144495.3:c.293-229C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001032381.2:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001032382.2:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001032383.2:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001032384.1:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167989.2:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167990.2:c.539C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167992.1:c.263C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005710.2:c.563C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2