chr3:87262160:C>T Detail (hg38) (POU1F1)

Information

Genome

Assembly Position
hg19 chr3:87,311,310-87,311,310 View the variant detail on this assembly version.
hg38 chr3:87,262,160-87,262,160

HGVS

Type Transcript Protein
RefSeq NM_001122757.2:c.593G>A NP_001116229.1:p.Arg198Gln
NM_000306.3:c.515G>A NP_000297.1:p.Arg172Gln
Ensemble ENST00000344265.8:c.593G>A ENST00000344265.8:p.Arg198Gln
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 Pathogenic 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
COSMIC COSM5400059 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2022-05-22 criteria provided, single submitter Pituitary hormone deficiency, combined, 1 germline Detail
Likely pathogenic 2017-09-28 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-07-26 criteria provided, single submitter Combined pituitary hormone deficiencies, genetic form 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.515G>A (p.Arg172Gln) AND Pituitary hormone deficiency, combined, 1 ClinVar Detail
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) AND not provided ClinVar Detail
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) AND Combined pituitary hormone deficiencies, genetic form 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
rs104893765 dbSNP
Genome
hg38
Position
chr3:87,262,160-87,262,160
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
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)
121380
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.238589553468446E-6
Genome browser