NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) AND Cutis laxa with osteodystrophy

Clinical significance:Pathogenic (Last evaluated: Sep 23, 2010)

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:
RCV000020689.5

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)]

NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)

Gene:
ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)
HGVS:
  • NC_000012.12:g.123724712_123724713del
  • NG_012743.1:g.17395_17396del
  • NM_012463.4:c.353_354delMANE SELECT
  • NP_036595.2:p.Leu118fs
  • NC_000012.11:g.124209259_124209260del
  • NM_012463.2:c.353_354delTG
Protein change:
L118fs
Links:
dbSNP: rs80356752
NCBI 1000 Genomes Browser:
rs80356752
Molecular consequence:
  • NM_012463.4:c.353_354del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cutis laxa with osteodystrophy (ARCL2A)
Synonyms:
CUTIS LAXA WITH BONE DYSTROPHY; CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY; Cutis laxa with joint laxity and retarded development; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018163; MedGen: C0268355; OMIM: 219200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000041237GeneReviewsno assertion criteria providedpathologic
(Sep 23, 2010)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000041237.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

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

Last Updated: Sep 29, 2021

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