NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Clinical significance:Likely pathogenic (Last evaluated: Dec 30, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410536.1

Allele description [Variation Report for NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)]

NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)

Gene:
G6PC1:glucose-6-phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)
HGVS:
  • NC_000017.11:g.42900955C>T
  • NG_011808.1:g.5158C>T
  • NM_000151.4:c.79C>TMANE SELECT
  • NM_001270397.2:c.79C>T
  • NP_000142.2:p.Gln27Ter
  • NP_001257326.1:p.Gln27Ter
  • LRG_147:g.5158C>T
  • NC_000017.10:g.41052972C>T
  • NM_000151.3:c.79C>T
Protein change:
Q27*
Links:
dbSNP: rs1057516367
NCBI 1000 Genomes Browser:
rs1057516367
Molecular consequence:
  • NM_000151.4:c.79C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001270397.2:c.79C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA (GSD1A)
Synonyms:
GSD Ia; Glycogen storage disease type 1A; Von Gierke disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009287; MedGen: C2919796; Orphanet: 364; Orphanet: 79258; OMIM: 232200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000485535Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 30, 2015)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000485535.1

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

Last Updated: Oct 7, 2021

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