16:50745155-50745155 A > -

Classification

Category 2 frameshift
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

gene: NOD2 synonym(s): ACUG, BLAU, CARD15, CD, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1, NOD2, ENSG00000167207

OMIM
OMIM:605956: NOD2 (Autosomal dominant inheritance)
OMIM:186580: Blau syndrome
OMIM:266600: {Inflammatory bowel disease 1, Crohn disease}
OMIM:617321: {Yao syndrome}

NM_022162.1 [CDS]
hgvs_c: NM_022162.1:c.1334del
reference AA: K
variant AA: X
reference codon: Aag
variant codon: ag
cDNA pos: 1438
CDS pos: 1333
translation impact: frameshift
protein sequence: NP_071445.1
AA pos: 445
hgvs_p: NP_071445.1:p.Lys445ArgfsTer12
blosum: -1

rs1198315856
TOPMED_MAF = 0.00002389143730886

gnomAD Southern European, (1 / 11454), 0.00873%