FANCL

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a UDN participant with a weakened immune system, mitochondrial deficiency, delayed stomach emptying, and multiple congenital anomalies. Research is underway to see if this change is causing symptoms in this participant (read full description).

Date of Report

Apr 12, 2022

Full Name

FA Complementation Group L

Location
Chromosome 2 (2p16.1)
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Function

FANCL gene encodes for a ubiquitin ligase within the Fanconi anemia complement group (Meetei et al. 2003)

Database Links

GeneCards: GC02M058127

NCBI Gene: 55120

OMIM: 608111

UniProtKB/Swiss-Prot: Q9NW38

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene FANCL
Inheritance Pattern Autosomal Recessive
Position (hg19) chr2:g.58468412G>A
Transcript NM_001114636.1
DNA Change c.37C>T
Protein Change p.Pro13Ser
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