ClinVar

NM_001163809.2(WDR81):c.3528C>T (p.Thr1176=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.3

Genomic location:

• Chr17: 1728487 (on Assembly GRCh38)
• Chr17: 1631781 (on Assembly GRCh37)

Preferred name:

NM_001163809.2(WDR81):c.3528C>T (p.Thr1176=)

HGVS:

• NC_000017.11:g.1728487C>T
• NG_032811.1:g.16965C>T
• NM_001163673.2:c.59-1893C>T
• NM_001163809.2:c.3528C>TMANE SELECT
• NM_001163811.2:c.-14-1893C>T
• NM_152348.4:c.375C>T
• NP_001157281.1:p.Thr1176=
• NP_001157281.1:p.Thr1176=
• NP_689561.2:p.Thr125=
• NC_000017.10:g.1631781C>T
• NM_001163809.1:c.3528C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs148375698

NCBI 1000 Genomes Browser:

rs148375698

Molecular consequence:

• NM_001163673.2:c.59-1893C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163811.2:c.-14-1893C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163809.2:c.3528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_152348.4:c.375C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

5