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NM_018300.4(ZNF83):c.824A>C (p.His275Pro) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000190282.2

Allele description [Variation Report for NM_018300.4(ZNF83):c.824A>C (p.His275Pro)]

NM_018300.4(ZNF83):c.824A>C (p.His275Pro)

Gene:
ZNF83:zinc finger protein 83 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
NM_018300.4(ZNF83):c.824A>C (p.His275Pro)
HGVS:
  • NC_000019.10:g.52613741T>G
  • NG_052996.1:g.81841A>C
  • NM_001105549.2:c.824A>C
  • NM_001105550.2:c.824A>C
  • NM_001105551.2:c.824A>C
  • NM_001105552.2:c.824A>C
  • NM_001277945.2:c.824A>C
  • NM_001277946.2:c.824A>C
  • NM_001277947.2:c.824A>C
  • NM_001277948.2:c.824A>C
  • NM_001277949.2:c.824A>C
  • NM_001277951.2:c.824A>C
  • NM_001277952.2:c.824A>C
  • NM_001348015.2:c.824A>C
  • NM_001348016.2:c.824A>C
  • NM_001348017.2:c.824A>C
  • NM_001348018.2:c.824A>C
  • NM_001348019.2:c.824A>C
  • NM_018300.4:c.824A>CMANE SELECT
  • NP_001099019.1:p.His275Pro
  • NP_001099019.1:p.His275Pro
  • NP_001099020.1:p.His275Pro
  • NP_001099021.1:p.His275Pro
  • NP_001099022.1:p.His275Pro
  • NP_001264874.1:p.His275Pro
  • NP_001264875.1:p.His275Pro
  • NP_001264876.1:p.His275Pro
  • NP_001264877.1:p.His275Pro
  • NP_001264878.1:p.His275Pro
  • NP_001264880.1:p.His275Pro
  • NP_001264881.1:p.His275Pro
  • NP_001334944.1:p.His275Pro
  • NP_001334945.1:p.His275Pro
  • NP_001334946.1:p.His275Pro
  • NP_001334947.1:p.His275Pro
  • NP_001334948.1:p.His275Pro
  • NP_060770.3:p.His275Pro
  • NC_000019.9:g.53116994T>G
  • NM_001105549.1:c.824A>C
Protein change:
H275P
Links:
dbSNP: rs575275768
NCBI 1000 Genomes Browser:
rs575275768
Molecular consequence:
  • NM_001105549.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001105550.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001105551.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001105552.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277945.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277946.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277947.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277948.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277949.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277951.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277952.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348015.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348016.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348017.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348018.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348019.2:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018300.4:c.824A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191090James Howe Lab, University of Iowa Hospital and Clinics
no classification provided
not providedunknownnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From James Howe Lab, University of Iowa Hospital and Clinics, SCV000191090.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024