Click here to see the new Variation Report design!

NM_001122757.2(POU1F1):c.889C>T (p.Arg297Trp)

Variation ID: Help
13603
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 1, 2005
Number of submission(s):
1
Condition(s):
Pituitary hormone deficiency, combined 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001122757.2(POU1F1):c.889C>T (p.Arg297Trp)

Allele ID:
28642
Variant type:
single nucleotide variant
Cytogenetic location:
3p11
Genomic location:
  • Chr3: 87259959 (on Assembly GRCh38)
  • Chr3: 87309109 (on Assembly GRCh37)
Protein change:
R271W, R297W
HGVS:
  • NG_008225.2:g.21629C>T
  • NM_001122757.2:c.889C>T
  • NP_000297.1:p.Arg271Trp
  • NP_001116229.1:p.Arg297Trp
  • NC_000003.12:g.87259959G>A (GRCh38)
  • NC_000003.11:g.87309109G>A (GRCh37)
  • NG_008225.1:g.21629C>T
  • NM_001122757.1:c.889C>T
Links:
NCBI 1000 Genomes Browser:
rs104893755
Molecular consequence:
NM_001122757.2:c.889C>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 1, 2005)
no assertion criteria providedliterature only
  • Pituitary hormone deficiency, combined 1[MedGen | OMIM]
germlineOMIMSCV000034827.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017