chr3:87310484:C>T Detail (hg38) (POU1F1)

Information

Genome

Assembly Position
hg19 chr3:87,359,634-87,359,634 View the variant detail on this assembly version.
hg38 chr3:87,310,484-87,310,484

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2011-12-07 no assertion criteria provided Pituitary hormone deficiency, combined, 1 inherited 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
NC_000003.12:g.87310484C>T AND Pituitary hormone deficiency, combined, 1 ClinVar Detail
NA DisGeNET Detail
Gene
-
dbSNP
rs606231411 dbSNP
Genome
hg38
Position
chr3:87,310,484-87,310,484
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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