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NP_203699.1:p.Gly51fs AND Alport syndrome 1, X-linked recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 4, 2012
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:
RCV000021123.2

Allele description

NP_203699.1:p.Gly51fs

Gene:
COL4A5:collagen type IV alpha 5 chain [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
Xq22.3
Preferred name:
NP_203699.1:p.Gly51fs
HGVS:

Condition(s)

Name:
Alport syndrome 1, X-linked recessive (ATS1)
Synonyms:
NEPHROPATHY AND DEAFNESS, X-LINKED; Alport Syndrome and Thin Basement Membrane Nephropathy; X-linked Alport syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010520; MedGen: C4746986; Orphanet: 63; Orphanet: 88917; OMIM: 301050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000041789Research and Development, ARUP Laboratories
no assertion criteria provided
Pathogenic
(Dec 4, 2012) 		not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Genotype-phenotype correlation in X-linked Alport syndrome.

Bekheirnia MR, Reed B, Gregory MC, McFann K, Shamshirsaz AA, Masoumi A, Schrier RW.

J Am Soc Nephrol. 2010 May;21(5):876-83. doi: 10.1681/ASN.2009070784. Epub 2010 Apr 8.

PubMed [citation]
PMID:
20378821
PMCID:
PMC2865738

Details of each submission

From Research and Development, ARUP Laboratories, SCV000041789.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021