Search unique variants - Fanconi anemia database - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the FANCJ database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.

12 entries
entries per page

Exon

DNA change

DNA_reported

RNA change

Protein

DNA_remark

DB-ID

Origin

Re-site

Frequency

03i

c.205+5G>T
(Reported 4 times)

IVS3+5G>T

r.(?)

p.G69fsX8

FANCJ_00004

c.751C>T

c.892C>T

r.(?)

p.R251C

FANCJ_00010

c.765G>T

r.(?)

p.Q255H

FANCJ_00011

c.1045G>C

1186G>C

r.(?)

p.A349P

FANCJ_00001

09i

c.1186C>G

r.(?)

p.H396D

FANCJ_00012

11i

c.1629-498A>T
(Reported 2 times)

80037A>T

r.(?)

80037A>T (c.1629-498A>T) generates new GT splice donor site activating cryptic AG splice acceptor positions 79071_79072; cDNA shows insertion of 963 bp between exon 11 and 12 (c.1628_1629ins963). Same individual as EUFA1333 (Levitus et al, 2005)

FANCJ_00002

c.1941G>C

r.(?)

p.W647C

FANCJ_00003

c.2119C>T

2119C>T

r.(?)

p.R707C

FANCJ_00005

c.2255_2256delAA

2255-2256delAA

r.(?)

p.K752fsX11

FANCJ_00006

c.2392C>T
(Reported 33 times)

2533C>T

r.(?)

p.R798X

FANCJ_00007

c.2400C>G

2541C>G

r.(?)

p.Y800X

FANCJ_00008

17i

c.2492+2dupT

IVS17+2insT

r.(?)

p.R831fsX3/G859fsX3

This mutation resulted in a deletion of either exon 17 or exon 18.

FANCJ_00009

1 - 12

Legend: [ FANCJ full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA_reported: DNA_reported RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. DNA_remark: DNA remark FANCJ DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Origin: Origin Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of polymorphism.

Fanconi anemia database

Fanconi anemia, complementation group J (BRIP1) (FANCJ)