NM_001145079.1(COG6):c.1646G>T (p.Gly549Val)

NM_001145079.1(COG6):c.1646G>T (p.Gly549Val)

Variant type:
single nucleotide variant
Cytogenetic location:
13q14.1
Genomic location:
  • Chr13:39723394 (on Assembly GRCh38)
  • Chr13:40297531 (on Assembly GRCh37)
Protein change:
G549V
HGVS:
  • NG_028352.1:g.72768G>T
  • NM_001145079.1:c.1646G>T
  • NC_000013.11:g.39723394G>T (GRCh38)
  • NP_001138551.1:p.Gly549Val
  • NC_000013.10:g.40297531G>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs387906959
Molecular consequence:
  • NM_001145079.1:c.1646G>T: missense variant SO:0001583
  • NR_026745.1:n.1811G>T: non-coding transcript variant SO:0001619

Clinical significance

NM_001145079.1(COG6):c.1646G>T (p.Gly549Val)

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)
  • Congenital disorder of glycosylation type 2L[MedGen - OMIM]
See supporting ClinVar records

1 Affected gene

Browser views

Recent activity

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
(Aug 13, 2013)
no assertion criteria providedliterature only
  • Congenital disorder of glycosylation type 2L[MedGen | OMIM]
germlinePubMed (3)
[See all records that cite these PMIDs]
OMIM

(May 3, 2012)

SCV000044894
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedCongenital disorder of glycosylation type 2L (not provided)not providednot providedPubMedHuybrechts et al. (2012) found homozygosity for the G549V mutation in a 27-month-old girl, born of consanguineous Moroccan parents, with CDG2L. She ha…Full description

Last Updated: Jul 1, 2015