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NC_000009.12:g.35657873G>A AND Metaphyseal chondrodysplasia, McKusick type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 2017
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:
RCV000667121.2

Allele description [Variation Report for NC_000009.12:g.35657873G>A]

NC_000009.12:g.35657873G>A

Gene:
RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NC_000009.12:g.35657873G>A
HGVS:
  • NC_000009.12:g.35657873G>A
  • NG_017041.1:g.5146C>T
  • NG_033120.1:g.4584G>A
  • LRG_163:g.5146C>T
  • NC_000009.11:g.35657870G>A
Links:
dbSNP: rs757576534
NCBI 1000 Genomes Browser:
rs757576534

Condition(s)

Name:
Metaphyseal chondrodysplasia, McKusick type (CHH)
Synonyms:
Cartilage-Hair Hypoplasia
Identifiers:
MONDO: MONDO:0009595; MedGen: C0220748; Orphanet: 175; OMIM: 250250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000791521Counsyl
no assertion criteria provided
Uncertain significance
(May 16, 2017) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000791521.2

#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: Oct 26, 2024