ClinVar

NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48902391 - 48902394 (on Assembly GRCh38)
• ChrX: 48759668 - 48759671 (on Assembly GRCh37)

Preferred name:

NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)

HGVS:

• NC_000023.11:g.48902391AG[4]
• NG_015967.1:g.9474AG[4]
• NG_015968.2:g.748CT[4]
• NG_034300.1:g.14557CT[4]
• NM_001032381.2:c.459_462del
• NM_001032382.2:c.459_462delMANE SELECT
• NM_001032383.2:c.459_462del
• NM_001032384.1:c.459_462del
• NM_001167989.2:c.459_462del
• NM_001167990.2:c.435_438del
• NM_001167992.1:c.202-51AG[4]
• NM_005710.2:c.459_462del
• NM_144495.3:c.293-341AG[4]
• NP_001027553.1:p.Arg153fs
• NP_001027554.1:p.Arg153fs
• NP_001027555.1:p.Arg153fs
• NP_001027556.1:p.Arg153fs
• NP_001161461.1:p.Arg153fs
• NP_001161462.1:p.Arg145fs
• NP_005701.1:p.Arg153fs
• NC_000023.10:g.48759668AG[4]
• NC_000023.10:g.48759668_48759671del
• NG_015967.1:g.9482_9485delAGAG
• NM_001032381.1:c.459_462delAGAG
• NM_001032382.1:c.459_462delAGAG
• NM_001032382.2:c.459_462del
• NM_001032383.1:c.459_462delAGAG
• NM_005710.2:c.451_454delAGAG
• NM_005710.2:c.459_462delAGAG

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 14634649 Fig. 1 to determine the location of this allele on the current reference sequence.

Protein change:

R145fs

Links:

OMIM: 300463.0002; dbSNP: rs606231193

NCBI 1000 Genomes Browser:

rs606231193

Molecular consequence:

• NM_001032381.2:c.459_462del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001032382.2:c.459_462del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001032383.2:c.459_462del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001032384.1:c.459_462del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001167989.2:c.459_462del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001167990.2:c.435_438del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_005710.2:c.459_462del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001167992.1:c.202-51AG[4] - intron variant - [Sequence Ontology: SO:0001627]
• NM_144495.3:c.293-341AG[4] - intron variant - [Sequence Ontology: SO:0001627]