1:103471460-103471462 CAT > -

Classification

Category 4 curation
CMH MAF 7411 / 12854 samples (57.7%)
2470 het., 4941 hom. (33.3%)
12352 / 25708 total alleles (48%)

gene: COL11A1 synonym(s): CO11A1, COLL6, STL2, COL11A1, ENSG00000060718

OMIM
OMIM:120280: COL11A1
OMIM:618533: ?Deafness, autosomal dominant 37
OMIM:228520: Fibrochondrogenesis 1
OMIM:154780: Marshall syndrome
OMIM:604841: Stickler syndrome, type II
OMIM:603932: {Lumbar disc herniation, susceptibility to}

NM_001854.3 [intron]
hgvs_c: NM_001854.3:c.1792-12_1792-10del
protein sequence: NP_001845.3

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

93966
clinvar_significance = Benign_Likely_benign
curated_classification = 4