NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) AND MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1

Clinical significance:Pathogenic (Last evaluated: May 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000003402.5

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]

Condition(s)

Name:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023560OMIMno assertion criteria providedPathogenic
(May 1, 2006)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H.

Hum Mutat. 2006 May;27(5):453-9.

PubMed [citation]
PMID:
16575835

Details of each submission

From OMIM, SCV000023560.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the gln590-to-his (Q590H) mutation in the POMT1 gene that was found in compound heterozygous state in a patient with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155) by van Reeuwijk et al. (2006), see 607423.0008.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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