Annotation Detail
Information
- Associated Genes
- POU1F1
- Associated Variants
-
POU1F1 p.Glu276AsnfsTer2 (p.E276Nfs*2)
(
ENST00000344265.8,
ENST00000350375.7,
ENST00000560656.1 )
POU1F1 p.Glu276AsnfsTer2 (p.E276Nfs*2) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Arg297Trp (p.R297W) ( ENST00000350375.7, ENST00000560656.1, ENST00000344265.8 )
POU1F1 p.Glu276Ter (p.E276*) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Pro265Ser (p.P265S) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Glu256Lys (p.E256K) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 c.743+1G>T ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Trp219Arg (p.W219R) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Ser205Arg (p.S205R) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Arg198Gln (p.R198Q) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Arg198Ter (p.R198*) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Ala184Pro (p.A184P) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Ala184Thr (p.A184T) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Lys171Ter (p.K171*) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Arg169Leu (p.R169L) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Arg169Gln (p.R169Q) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Phe161Cys (p.F161C) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Pro24Leu (p.P24L) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
NC_000003.12:g.87310484C>T
POU1F1 p.Arg297Trp (p.R297W) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Glu276Ter (p.E276*) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Pro265Ser (p.P265S) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Glu256Lys (p.E256K) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 c.743+1G>T ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Trp219Arg (p.W219R) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Ser205Arg (p.S205R) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Arg198Gln (p.R198Q) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Arg198Ter (p.R198*) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Ala184Pro (p.A184P) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Ala184Thr (p.A184T) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Lys171Ter (p.K171*) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Arg169Leu (p.R169L) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Arg169Gln (p.R169Q) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Phe161Cys (p.F161C) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
POU1F1 p.Pro24Leu (p.P24L) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 )
NC_000003.12:g.87310484C>T
POU1F1 p.Arg285LysfsTer27 (p.R285Kfs*27)
POU1F1 p.Arg285LysfsTer27 (p.R285Kfs*27) - Associated Disease
- Pituitary hormone deficiency, combined, 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs