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NM_198334.3(GANAB):c.323C>T (p.Pro108Leu) AND Autosomal dominant polycystic liver disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001844929.1

Allele description [Variation Report for NM_198334.3(GANAB):c.323C>T (p.Pro108Leu)]

NM_198334.3(GANAB):c.323C>T (p.Pro108Leu)

Gene:
GANAB:glucosidase II alpha subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
NM_198334.3(GANAB):c.323C>T (p.Pro108Leu)
HGVS:
  • NC_000011.10:g.62639040G>A
  • NG_053018.1:g.12687C>T
  • NM_001278192.2:c.39-4040C>T
  • NM_001278193.2:c.39-4040C>T
  • NM_001278194.2:c.32C>T
  • NM_001329222.2:c.32C>T
  • NM_001329223.2:c.32C>T
  • NM_001329224.2:c.-454C>T
  • NM_001329225.2:c.-454C>T
  • NM_198334.3:c.323C>TMANE SELECT
  • NM_198335.4:c.323C>T
  • NP_001265123.1:p.Pro11Leu
  • NP_001316151.1:p.Pro11Leu
  • NP_001316152.1:p.Pro11Leu
  • NP_938148.1:p.Pro108Leu
  • NP_938149.2:p.Pro108Leu
  • NC_000011.9:g.62406512G>A
Protein change:
P108L
Links:
dbSNP: rs200232092
NCBI 1000 Genomes Browser:
rs200232092
Molecular consequence:
  • NM_001329224.2:c.-454C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001329225.2:c.-454C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001278192.2:c.39-4040C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278193.2:c.39-4040C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278194.2:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329222.2:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001329223.2:c.32C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198334.3:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198335.4:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant polycystic liver disease
Synonyms:
Isolated polycystic liver disease; Isolated autosomal dominant polycystic liver disease; Congenital cystic disease of liver; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0000447; MedGen: C0158683; OMIM: PS174050; Human Phenotype Ontology: HP:0006557

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001877060Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center
no assertion criteria provided
Uncertain significance
(Sep 1, 2021) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center, SCV001877060.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024