chr3:87260024:T> Detail (hg38) (POU1F1)

Information

Genome

Assembly Position
hg19 chr3:87,309,174-87,309,174 
hg38 chr3:87,260,024-87,260,024

HGVS

Type Transcript Protein
RefSeq NM_001122757.2:c.824delA NP_001116229.1:p.Glu276AsnfsTer2
NM_000306.3:c.746delA NP_000297.1:p.Glu250AsnfsTer2
Ensemble ENST00000344265.8:c.824delA ENST00000344265.8:p.Glu276AsnfsTer2
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely pathogenic
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 tgv319637418 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2001-04-01 no assertion criteria provided Pituitary hormone deficiency, combined, 1 germline Detail
Likely pathogenic 2022-12-26 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.747del (p.Glu250fs) AND Pituitary hormone deficiency, combined, 1 ClinVar Detail
NM_000306.4(POU1F1):c.747del (p.Glu250fs) 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
rs587776798 dbSNP
Genome
hg38
Position
chr3:87,260,024-87,260,024
Variant Type
snv
Reference Allele
T
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121074
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.477823479855295E-5
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