U.S. flag

An official website of the United States government

NM_139058.3(ARX):c.260G>C (p.Arg87Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 30, 2015
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:
RCV000167561.1

Allele description [Variation Report for NM_139058.3(ARX):c.260G>C (p.Arg87Pro)]

NM_139058.3(ARX):c.260G>C (p.Arg87Pro)

Gene:
ARX:aristaless related homeobox [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.3
Genomic location:
Preferred name:
NM_139058.3(ARX):c.260G>C (p.Arg87Pro)
HGVS:
  • NC_000023.11:g.25013735C>G
  • NG_008281.1:g.7214G>C
  • NG_052655.1:g.306C>G
  • NM_139058.3:c.260G>CMANE SELECT
  • NP_620689.1:p.Arg87Pro
  • NC_000023.10:g.25031852C>G
  • NM_139058.2:c.260G>C
Protein change:
R87P
Links:
dbSNP: rs786203995
NCBI 1000 Genomes Browser:
rs786203995
Molecular consequence:
  • NM_139058.3:c.260G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000218442Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
no assertion criteria provided
Uncertain significance
(Jan 30, 2015) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000218442.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024