NM_001281463.1(SMC1A):c.3512T>G (p.Phe1171Cys) AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Jan 21, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000210626.4

Allele description [Variation Report for NM_001281463.1(SMC1A):c.3512T>G (p.Phe1171Cys)]

NM_001281463.1(SMC1A):c.3512T>G (p.Phe1171Cys)

Gene:
SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_001281463.1(SMC1A):c.3512T>G (p.Phe1171Cys)
HGVS:
  • NC_000023.11:g.53380660A>C
  • NG_006988.2:g.47011T>G
  • NM_001281463.1:c.3512T>G
  • NM_006306.3:c.3578T>G
  • NP_001268392.1:p.Phe1171Cys
  • NP_006297.2:p.Phe1193Cys
  • LRG_773t1:c.3512T>G
  • LRG_773t2:c.3578T>G
  • LRG_773:g.47011T>G
  • LRG_773p1:p.Phe1171Cys
  • LRG_773p2:p.Phe1193Cys
  • NC_000023.10:g.53407581A>C
  • NM_006306.2:c.3578T>G
Protein change:
F1171C
Links:
dbSNP: rs869312954
NCBI 1000 Genomes Browser:
rs869312954
Molecular consequence:
  • NM_001281463.1:c.3512T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006306.3:c.3578T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000262978Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Jan 21, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000262978.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 7, 2020

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