NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) AND Rhizomelic chondrodysplasia punctata type 1

Clinical significance:Likely pathogenic (Last evaluated: Aug 12, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000169280.1

Allele description [Variation Report for NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)]

NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)

Gene:
PEX7:peroxisomal biogenesis factor 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
HGVS:
  • NC_000006.12:g.136822739C>T
  • NG_008462.1:g.5160C>T
  • NM_000288.4:c.74C>TMANE SELECT
  • NP_000279.1:p.Ser25Phe
  • NC_000006.11:g.137143877C>T
  • NM_000288.3:c.74C>T
Protein change:
S25F
Links:
dbSNP: rs61753236
NCBI 1000 Genomes Browser:
rs61753236
Molecular consequence:
  • NM_000288.4:c.74C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Rhizomelic chondrodysplasia punctata type 1 (RCDP1)
Synonyms:
Chondrodysplasia punctata rhizomelic form; Chondrodystrophia calcificans punctata; PEROXISOME BIOGENESIS DISORDER 9
Identifiers:
MONDO: MONDO:0008972; MedGen: C1859133; Orphanet: 177; OMIM: 215100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000220587Counsylcriteria provided, single submitter
Likely pathogenic
(Aug 12, 2014)
unknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Using whole-exome sequencing to identify inherited causes of autism.

Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, et al.

Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002.

PubMed [citation]
PMID:
23352163
PMCID:
PMC3694430

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D.

Hum Mutat. 2002 Oct;20(4):284-97.

PubMed [citation]
PMID:
12325024

Details of each submission

From Counsyl, SCV000220587.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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