chr3:87309109:G>A Detail (hg19) (POU1F1)

Information

Genome

Assembly Position
hg19 chr3:87,309,109-87,309,109
hg38 chr3:87,259,959-87,259,959 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000306.3:c.811C>T NP_000297.1:p.Arg271Trp
NM_001122757.2:c.889C>T NP_001116229.1:p.Arg297Trp
Ensemble ENST00000350375.7:c.811C>T ENST00000350375.7:p.Arg271Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 173110 OMIM
HGNC 9210 HGNC
Ensembl ENSG00000064835 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM263051 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic pituitary hormone deficiency, combined germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic pituitary hormone deficiency, combined germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-08-01 no assertion criteria provided Pituitary hormone deficiency, combined, 1 germline Detail
Uncertain significance 2016-11-16 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Pituitary hormone deficiency, combined, 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp) AND Pituitary hormone deficiency, combined, 1 ClinVar Detail
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp) AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs104893755 dbSNP
Genome
hg19
Position
chr3:87,309,109-87,309,109
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser