U.S. flag

An official website of the United States government

NM_001113378.2(FANCI):c.3006+3A>G AND Fanconi anemia complementation group I

Clinical significance:Pathogenic (Last evaluated: Feb 7, 2011)

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:
RCV001195000.1

Allele description [Variation Report for NM_001113378.2(FANCI):c.3006+3A>G]

NM_001113378.2(FANCI):c.3006+3A>G

Gene:
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001113378.2(FANCI):c.3006+3A>G
HGVS:
  • NC_000015.10:g.89301445A>G
  • NG_011736.1:g.62483A>G
  • NM_001113378.2:c.3006+3A>GMANE SELECT
  • NM_001376910.1:c.2727+3A>G
  • NM_001376911.1:c.3006+3A>G
  • NM_018193.3:c.2826+3A>G
  • LRG_500t1:c.3006+3A>G
  • LRG_500:g.62483A>G
  • NC_000015.9:g.89844676A>G
  • NM_001113378.1:c.3006+3A>G
Links:
dbSNP: rs1294973649
NCBI 1000 Genomes Browser:
rs1294973649
Molecular consequence:
  • NM_001113378.2:c.3006+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376910.1:c.2727+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001376911.1:c.3006+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018193.3:c.2826+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Fanconi anemia complementation group I
Identifiers:
MONDO: MONDO:0012186; MedGen: C1836861; Orphanet: 84; OMIM: 609053

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001364878Leiden Open Variation Databaseno assertion criteria providedPathogenic
(Feb 7, 2011)
germlinecuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Identification of the Fanconi anemia complementation group I gene, FANCI.

Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, Bakker ST, Steltenpool J, Schuler D, Mohan S, Schindler D, Arwert F, Pals G, Mathew CG, Waisfisz Q, de Winter JP, Joenje H.

Cell Oncol. 2007;29(3):211-8.

PubMed [citation]
PMID:
17452773
PMCID:
PMC4618213

Details of each submission

From Leiden Open Variation Database, SCV001364878.1

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

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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

Last Updated: Apr 23, 2022

Support Center