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NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 8, 2016
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:
RCV000382228.4

Allele description [Variation Report for NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)]

NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)

Gene:
FKRP:fukutin related protein [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)
HGVS:
  • NC_000019.10:g.46756719_46756720insT
  • NG_008898.2:g.15674_15675insT
  • NM_001039885.3:c.1269_1270insT
  • NM_024301.4:c.1269_1270insT
  • NM_024301.5:c.1269_1270insTMANE SELECT
  • NP_001034974.1:p.Asn424Ter
  • NP_077277.1:p.Asn424Ter
  • LRG_761t1:c.1269_1270insT
  • LRG_761:g.15674_15675insT
  • LRG_761p1:p.Asn424Ter
  • NC_000019.9:g.47259976_47259977insT
  • NM_024301.5:c.1269_1270insT
Protein change:
N424*
Links:
dbSNP: rs772950604
NCBI 1000 Genomes Browser:
rs772950604
Molecular consequence:
  • NM_001039885.3:c.1269_1270insT - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024301.5:c.1269_1270insT - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000343378Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Pathogenic
(Jul 8, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000343378.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024