ClinVar

NM_001032382.2(PQBP1):c.180-306G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 48901624 (on Assembly GRCh38)
• ChrX: 48758901 (on Assembly GRCh37)

Preferred name:

NM_001032382.2(PQBP1):c.180-306G>A

HGVS:

• NC_000023.11:g.48901624G>A
• NG_015967.1:g.8707G>A
• NG_015968.2:g.1526C>T
• NG_034300.1:g.15335C>T
• NM_001032381.2:c.180-306G>A
• NM_001032382.2:c.180-306G>AMANE SELECT
• NM_001032383.2:c.180-306G>A
• NM_001032384.1:c.180-306G>A
• NM_001167989.2:c.180-306G>A
• NM_001167990.2:c.156-306G>A
• NM_001167992.1:c.180-306G>A
• NM_005710.2:c.180-306G>A
• NM_144495.3:c.180-306G>A
• NC_000023.10:g.48758901G>A
• NM_144495.2:c.180-306G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2063414930

NCBI 1000 Genomes Browser:

rs2063414930

Molecular consequence:

• NM_001032381.2:c.180-306G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001032382.2:c.180-306G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001032383.2:c.180-306G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001032384.1:c.180-306G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001167989.2:c.180-306G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001167990.2:c.156-306G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001167992.1:c.180-306G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005710.2:c.180-306G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_144495.3:c.180-306G>A - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

Variation affecting splicing function of RNA [Variation Ontology: 0397] - Comment(s)

• RNAseq analysis performed on a sample from this individual detected abnormal splicing of PQBP1, which is possibly caused by a cryptic splice site activated by the PQBP1 variant, causing inclusion of a new exon from the intron 3 region that causes a frameshift.

Observations:

1