1:92763093-92763093 A > -

Classification

Category 5 curation
CMH MAF 218 / 12015 samples (1.81%)
209 het., 9 hom. (95.9%)
227 / 24030 total alleles (0.945%)

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

TRNAN-GUU [intron]

gene: GLMN synonym(s): FAP, FAP48, FAP68, FKBPAP, GLML, GVM, VMGLOM, GLMN, ENSG00000174842

OMIM
OMIM:601749: GLMN (Autosomal dominant inheritance)
OMIM:138000: Glomuvenous malformations

NM_053274.2 [intron]
hgvs_c: NM_053274.2:c.40-6del
splice impact: polypyrimidine_tract
protein sequence: NP_444504.1
curated_classification = 5