NM_001100.3(ACTA1):c.[222G>T;223C>T] – Haplotype

NM_001100.3(ACTA1):c.222G>T (p.Glu74Asp)

Variant type:
single nucleotide variant
Cytogenetic location:
1q42.1
Genomic location:
  • Chr1:229432788 (on Assembly GRCh38)
  • Chr1:229568535 (on Assembly GRCh37)
Protein change:
E74D
HGVS:
  • NG_006672.1:g.6309G>T
  • NM_001100.3:c.222G>T
  • NC_000001.11:g.229432788C>A (GRCh38)
  • NP_001091.1:p.Glu74Asp
  • NC_000001.10:g.229568535C>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs267606626
Molecular consequence:
NM_001100.3:c.222G>T: missense variant [Sequence Ontology SO:0001583]

NM_001100.3(ACTA1):c.223C>T (p.His75Tyr)

Variant type:
single nucleotide variant
Cytogenetic location:
1q42.1
Genomic location:
  • Chr1:229432787 (on Assembly GRCh38)
  • Chr1:229568534 (on Assembly GRCh37)
Protein change:
H75Y
HGVS:
  • NG_006672.1:g.6310C>T
  • NM_001100.3:c.223C>T
  • NC_000001.11:g.229432787G>A (GRCh38)
  • NP_001091.1:p.His75Tyr
  • NC_000001.10:g.229568534G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs267606627
Molecular consequence:
NM_001100.3:c.223C>T: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_001100.3(ACTA1):c.[222G>T;223C>T]

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(May 10, 2013)
no assertion criteria providedliterature onlygermlinePubMed (1)
[See all records that cite this PMID]
OMIM

(Dec 30, 2010)

SCV000040253
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedNemaline myopathy 3 (not provided)not providednot providedPubMedIn a male infant with severe fatal nemaline myopathy (NEM3; 161800), Garcia-Angarita et al. (2009) identified heterozygosity for an allele carrying 2…Full description

Last Updated: Jun 27, 2015