U.S. flag

An official website of the United States government

NM_001025231.3(KPRP):c.825T>A (p.Phe275Leu) AND Malignant tumor of prostate

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000149032.5

Allele description [Variation Report for NM_001025231.3(KPRP):c.825T>A (p.Phe275Leu)]

NM_001025231.3(KPRP):c.825T>A (p.Phe275Leu)

Gene:
KPRP:keratinocyte proline rich protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_001025231.3(KPRP):c.825T>A (p.Phe275Leu)
HGVS:
  • NC_000001.11:g.152760413T>A
  • NG_051190.1:g.7384T>A
  • NM_001025231.3:c.825T>AMANE SELECT
  • NP_001020402.1:p.Phe275Leu
  • NC_000001.10:g.152732889T>A
  • NM_001025231.1:c.825T>A
Protein change:
F275L
Links:
dbSNP: rs193920890
NCBI 1000 Genomes Browser:
rs193920890
Molecular consequence:
  • NM_001025231.3:c.825T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; Human Phenotype Ontology: HP:0012125

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000088674Science for Life laboratory, Karolinska Institutet
no assertion criteria provided
Unknownsomaticnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided2not providedliterature only

Details of each submission

From Science for Life laboratory, Karolinska Institutet, SCV000088674.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided2not providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024