chr3:87264299:C>T Detail (hg38) (POU1F1)

Information

Genome

Assembly Position
hg19 chr3:87,313,449-87,313,449 View the variant detail on this assembly version.
hg38 chr3:87,264,299-87,264,299

HGVS

Type Transcript Protein
RefSeq NM_001122757.2:c.506G>A NP_001116229.1:p.Arg169Gln
NM_000306.3:c.428G>A NP_000297.1:p.Arg143Gln
Ensemble ENST00000344265.8:c.506G>A ENST00000344265.8:p.Arg169Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 tgv13297066 TogoVar
COSMIC COSM1425587 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1992-12-15 no assertion criteria provided Pituitary hormone deficiency, combined, 1 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.428G>A (p.Arg143Gln) AND Pituitary hormone deficiency, combined, 1 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
rs104893759 dbSNP
Genome
hg38
Position
chr3:87,264,299-87,264,299
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser