NM_000111.2(SLC26A3):c.2205+3A>G AND Congenital secretory diarrhea, chloride type

Clinical significance:Likely pathogenic

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:
RCV000049402.1

Allele description [Variation Report for NM_000111.2(SLC26A3):c.2205+3A>G]

NM_000111.2(SLC26A3):c.2205+3A>G

Gene:
SLC26A3:solute carrier family 26 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000111.2(SLC26A3):c.2205+3A>G
HGVS:
  • NC_000007.14:g.107767763T>C
  • NG_008046.1:g.40471A>G
  • NM_000111.2:c.2205+3A>G
  • LRG_683t1:c.2205+3A>G
  • LRG_683:g.40471A>G
  • NC_000007.13:g.107408208T>C
Links:
dbSNP: rs386833475
NCBI 1000 Genomes Browser:
rs386833475
Allele Frequency:
0.00001(C)
Molecular consequence:
  • NM_000111.2:c.2205+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Congenital secretory diarrhea, chloride type (DIAR1)
Synonyms:
CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE
Identifiers:
MedGen: C0267662; OMIM: 214700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000081835Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedprobable-pathogenicnot providednot provided

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

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000081835

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Update on SLC26A3 mutations in congenital chloride diarrhea.

Wedenoja S, Pekansaari E, Höglund P, Mäkelä S, Holmberg C, Kere J.

Hum Mutat. 2011 Jul;32(7):715-22. doi: 10.1002/humu.21498. Epub 2011 Jun 7. Review.

PubMed [citation]
PMID:
21394828

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000081835.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2018