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NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000415169.5

Allele description [Variation Report for NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)]

NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)

Gene:
RYR1:ryanodine receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
HGVS:
  • NC_000019.10:g.38499961T>A
  • NG_008866.1:g.71262T>A
  • NM_000540.3:c.7268T>AMANE SELECT
  • NM_001042723.2:c.7268T>A
  • NP_000531.2:p.Met2423Lys
  • NP_000531.2:p.Met2423Lys
  • NP_001036188.1:p.Met2423Lys
  • LRG_766t1:c.7268T>A
  • LRG_766:g.71262T>A
  • LRG_766p1:p.Met2423Lys
  • NC_000019.9:g.38990601T>A
  • NM_000540.2:c.7268T>A
  • P21817:p.Met2423Lys
Protein change:
M2423K; MET2423LYS
Links:
UniProtKB: P21817#VAR_032915; OMIM: 180901.0027; dbSNP: rs118192174
NCBI 1000 Genomes Browser:
rs118192174
Molecular consequence:
  • NM_000540.3:c.7268T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042723.2:c.7268T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Clubfoot
Synonyms:
Talipes equinovarus; Congenital Talipes Equinovarus; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007342; MedGen: C0009081; Orphanet: 199315; OMIM: 119800; Human Phenotype Ontology: HP:0001762
Name:
EMG abnormality
Identifiers:
MedGen: C0476403; Human Phenotype Ontology: HP:0003457
Name:
Lower limb amyotrophy
Identifiers:
MedGen: C4024921; Human Phenotype Ontology: HP:0007210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492579Centre for Mendelian Genomics, University Medical Centre Ljubljana
no assertion criteria provided
Pathogenic
(Mar 18, 2016) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492579.1

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

Last Updated: Oct 20, 2024