ClinVar

NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)

Gene:

WDR81:WD repeat domain 81 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.3

Genomic location:

• Chr17: 1728245 (on Assembly GRCh38)
• Chr17: 1631539 (on Assembly GRCh37)

Preferred name:

NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)

HGVS:

• NC_000017.11:g.1728245C>T
• NG_032811.1:g.16723C>T
• NM_001163673.2:c.59-2135C>T
• NM_001163809.2:c.3286C>TMANE SELECT
• NM_001163811.2:c.-14-2135C>T
• NM_152348.4:c.133C>T
• NP_001157281.1:p.Gln1096Ter
• NP_001157281.1:p.Gln1096Ter
• NP_689561.2:p.Gln45Ter
• NC_000017.10:g.1631539C>T
• NM_001163809.1:c.3286C>T

This HGVS expression did not pass validation

Protein change:

Q1096*; GLN1096TER

Links:

OMIM: 614218.0003; dbSNP: rs770279237

NCBI 1000 Genomes Browser:

rs770279237

Molecular consequence:

• NM_001163673.2:c.59-2135C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163811.2:c.-14-2135C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163809.2:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_152348.4:c.133C>T - nonsense - [Sequence Ontology: SO:0001587]