NM_000288.4(PEX7):c.429del (p.Val144fs) AND Rhizomelic chondrodysplasia punctata

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2020)

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:
RCV001275004.1

Allele description [Variation Report for NM_000288.4(PEX7):c.429del (p.Val144fs)]

NM_000288.4(PEX7):c.429del (p.Val144fs)

Gene:
PEX7:peroxisomal biogenesis factor 7 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_000288.4(PEX7):c.429del (p.Val144fs)
HGVS:
  • NC_000006.12:g.136846084del
  • NG_008462.1:g.28505del
  • NM_000288.4:c.429delMANE SELECT
  • NP_000279.1:p.Val144fs
  • NC_000006.11:g.137167222del
  • NM_000288.3:c.429delT
  • NM_000288.4:c.429delTMANE SELECT
Protein change:
V144fs
Links:
dbSNP: rs61753248
NCBI 1000 Genomes Browser:
rs61753248
Molecular consequence:
  • NM_000288.4:c.429del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Rhizomelic chondrodysplasia punctata (RCDP)
Identifiers:
MONDO: MONDO:0015776; MedGen: C0282529; OMIM: PS215100

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
SCV001459667Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001459667.1

#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 7, 2021

Support Center