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NM_000165.5(GJA1):c.565del (p.Arg189fs) AND Oculodentodigital dysplasia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000987766.1

Allele description [Variation Report for NM_000165.5(GJA1):c.565del (p.Arg189fs)]

NM_000165.5(GJA1):c.565del (p.Arg189fs)

Gene:
GJA1:gap junction protein alpha 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q22.31
Genomic location:
Preferred name:
NM_000165.5(GJA1):c.565del (p.Arg189fs)
HGVS:
  • NC_000006.12:g.121447412del
  • NG_008308.1:g.16814del
  • NM_000165.5:c.565delMANE SELECT
  • NP_000156.1:p.Arg189fs
  • LRG_1289t1:c.565del
  • LRG_1289:g.16814del
  • LRG_1289p1:p.Arg189fs
  • NC_000006.11:g.121768555del
  • NC_000006.11:g.121768555delA
  • NC_000006.11:g.121768558del
Protein change:
R189fs
Links:
dbSNP: rs1582558420
NCBI 1000 Genomes Browser:
rs1582558420
Molecular consequence:
  • NM_000165.5:c.565del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Oculodentodigital dysplasia (ODDD)
Synonyms:
ODD syndrome; Oculodentodigital syndrome
Identifiers:
MONDO: MONDO:0008111; MedGen: C0812437; Orphanet: 2710; OMIM: 164200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001137212Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137212.1

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

Last Updated: Feb 20, 2024