rs3130062

This is a variant in the NFKBIL1 gene that changes a arginine to an cysteine.

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ClinVar annotation

Benign
1 submitter

NFKBIL1-related disorder

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Research that mentions this SNP (1)

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Association of TGFβ1 and clinical factors with scar outcome following melanoma excision
AssociationN=202Ward SV et al.(2012)· Archives of Dermatological Research

Genetic association study of 202 melanoma patients examining SNPs in 24 candidate genes related to pigmentation and wound healing in relation to scar outcome. SNP rs8110090 in TGFβ1 was significantly associated with poorer scar outcomes (p=0.0002). Clinical factors including younger age, shorter time since surgery, and presence of infection or eczema were also associated with worse scarring.

Traits studied:Scar heightScar outcome following melanoma excisionScar vascularityWound healing
PubMedDOIMetascience Observatory

About NFKBIL1

This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

View all NFKBIL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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