1:61872217-61872217 C > -

Classification

Category 4 curation
CMH MAF 1166 / 12202 samples (9.56%)
1117 het., 49 hom. (95.8%)
1215 / 24404 total alleles (4.98%)

gene: NFIA synonym(s): CTF, NF-I%2FA, NF1-A, NFI-A, NFI-L, NFIA, ENSG00000162599

OMIM
OMIM:600727: NFIA
OMIM:613735: Brain malformations with or without urinary tract defects

NM_005595.4 [intron]
hgvs_c: NM_005595.4:c.1255-5del
protein sequence: NP_005586.1

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

TRNAN-GUU [intron]
curated_classification = 4