U.S. flag

An official website of the United States government

NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn) AND Short stature

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 18, 2001
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:
RCV000736217.1

Allele description [Variation Report for NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn)]

NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn)

Gene:
PHF20:PHD finger protein 20 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.23
Genomic location:
Preferred name:
NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn)
HGVS:
  • NC_000020.11:g.35938989G>A
  • NM_016436.5:c.2593G>AMANE SELECT
  • NP_057520.2:p.Asp865Asn
  • NC_000020.10:g.34526911G>A
  • NM_016436.4:c.2593G>A
Protein change:
D865N
Links:
dbSNP: rs771829423
NCBI 1000 Genomes Browser:
rs771829423
Molecular consequence:
  • NM_016436.5:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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
SCV000864514Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
no assertion criteria provided
Likely pathogenic
(Nov 18, 2001) 		unknowncase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000864514.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022