NM_022336.3(EDAR):c.731-99C>T AND not provided

Clinical significance:Uncertain significance

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000143986.1

Allele description [Variation Report for NM_022336.3(EDAR):c.731-99C>T]

NM_022336.3(EDAR):c.731-99C>T

Genes:
RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
EDAR:ectodysplasin A receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_022336.3(EDAR):c.731-99C>T
HGVS:
  • NC_000002.12:g.108910631G>A
  • NG_008257.1:g.83742C>T
  • NM_022336.3:c.731-99C>T
  • NC_000002.11:g.109527087G>A
Links:
dbSNP: rs260631
NCBI 1000 Genomes Browser:
rs260631
Molecular consequence:
  • NM_022336.3:c.731-99C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188872Genomic Research Center,Shahid Beheshti University of Medical Sciencesno assertion criteria providedunknownsomaticnot provided

Summary from all submissions

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

Details of each submission

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000188872.1

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

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

Support Center