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LAMC2

laminin subunit gamma 2

HCNC Approved Symbol
LAMC2 (HGNC:6493)
Genomic Coordinates
1:183,186,264 - 183,258,968 (1q25.3)
Synonyms
nicein-100kDa, kalinin-105kDa, BM600-100kDa, EBR2, LAMB2T, LAMNB2, EBR2A
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the LAMC2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Bleeding with minor or no trauma
 2 (66.7%)
Skin blistering
 1 (33.3%)
Skin fragility
 1 (33.3%)
Recurrent respiratory tract infections, upper and lower
 1 (33.3%)
Skin fragility with non-scarring blistering
 1 (33.3%)
LAMC2 - Gene browser | 3billion