NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 25, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000175324.1

Allele description [Variation Report for NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)]

NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)

Gene:
POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
HGVS:
  • NC_000009.12:g.131521351G>C
  • NG_008896.1:g.23450G>C
  • NM_001077365.2:c.1704G>CMANE SELECT
  • NM_001077366.2:c.1542G>C
  • NM_001136113.2:c.1704G>C
  • NM_001136114.2:c.1353G>C
  • NM_001353193.2:c.1770G>C
  • NM_001353194.2:c.1542G>C
  • NM_001353195.2:c.1353G>C
  • NM_001353196.2:c.1614G>C
  • NM_001353197.2:c.1608G>C
  • NM_001353198.2:c.1608G>C
  • NM_001353199.2:c.1419G>C
  • NM_001353200.2:c.1248G>C
  • NM_001374689.1:c.1692G>C
  • NM_001374690.1:c.1485G>C
  • NM_001374691.1:c.1353G>C
  • NM_001374692.1:c.1353G>C
  • NM_001374693.1:c.1353G>C
  • NM_001374695.1:c.1314G>C
  • NM_007171.3:c.1770G>C
  • NM_007171.4:c.1770G>C
  • NP_001070833.1:p.Gln568His
  • NP_001070834.1:p.Gln514His
  • NP_001129585.1:p.Gln568His
  • NP_001129586.1:p.Gln451His
  • NP_001340122.2:p.Gln590His
  • NP_001340123.1:p.Gln514His
  • NP_001340124.1:p.Gln451His
  • NP_001340125.1:p.Gln538His
  • NP_001340126.2:p.Gln536His
  • NP_001340127.2:p.Gln536His
  • NP_001340128.2:p.Gln473His
  • NP_001340129.1:p.Gln416His
  • NP_001361618.1:p.Gln564His
  • NP_001361619.1:p.Gln495His
  • NP_001361620.1:p.Gln451His
  • NP_001361621.1:p.Gln451His
  • NP_001361622.1:p.Gln451His
  • NP_001361624.1:p.Gln438His
  • NP_009102.3:p.Gln590His
  • NP_009102.3:p.Gln590His
  • NP_009102.4:p.Gln590His
  • LRG_842t1:c.1770G>C
  • LRG_842t2:c.1704G>C
  • LRG_842p1:p.Gln590His
  • LRG_842p2:p.Gln568His
  • NC_000009.11:g.134396738G>C
  • NR_148391.2:n.1738G>C
  • NR_148392.2:n.1956G>C
  • NR_148393.2:n.1877G>C
  • NR_148394.2:n.1631G>C
  • NR_148395.2:n.2029G>C
  • NR_148396.2:n.1663G>C
  • NR_148397.2:n.1788G>C
  • NR_148398.2:n.1743G>C
  • NR_148399.2:n.2269G>C
  • NR_148400.2:n.1868G>C
  • Q9Y6A1:p.Gln590His
Protein change:
Q416H; GLN590HIS
Links:
UniProtKB: Q9Y6A1#VAR_065035; OMIM: 607423.0009; dbSNP: rs119462986
NCBI 1000 Genomes Browser:
rs119462986
Molecular consequence:
  • NM_001077365.2:c.1704G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.1542G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.1704G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136114.2:c.1353G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.1770G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.1542G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353195.2:c.1353G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353196.2:c.1614G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.1608G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.1608G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353199.2:c.1419G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353200.2:c.1248G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.1692G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.1485G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374691.1:c.1353G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374692.1:c.1353G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.1353G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374695.1:c.1314G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.3:c.1770G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.1770G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.1738G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.1956G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.1877G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.1631G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.2029G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148396.2:n.1663G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148397.2:n.1788G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.1743G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.2269G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148400.2:n.1868G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226795EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Oct 25, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000226795.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 24, 2021

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