1:17355075-17355075 A > T

Classification

Category 4 curation
CMH MAF 61 / 11947 samples (0.511%)
61 het., 0 hom. (100%)
61 / 23894 total alleles (0.255%)

gene: SDHB synonym(s): CWS2, IP, PGL4, SDH, SDH1, SDH2, SDHIP, SDHB, ENSG00000117118

OMIM
OMIM:185470: SDHB (Autosomal dominant inheritance,Sporadic)
OMIM:606764: Gastrointestinal stromal tumor
OMIM:606864: Paraganglioma and gastric stromal sarcoma
OMIM:115310: Paragangliomas 4
OMIM:171300: Pheochromocytoma

NM_003000.2 [intron]
hgvs_c: NM_003000.2:c.423+20T>A
splice impact: five_prime_intronic
protein sequence: NP_002991.2

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

TRNAN-GUU [intron]

rs190139590
GMAF = 0.001198
TOPMED_MAF = 0.00173611111111111

EVS
EVS MAF (European American/African American/All) = 0.003140,0.000227,0.002153

ExAC South Asian, (147 / 16504), 0.891%
gnomAD South Asian, (295 / 30614), 0.964% curated_classification = 4