1:17371286-17371286 T > C

Classification

Category 4 curation
CMH MAF 27 / 13144 samples (0.205%)
27 het., 0 hom. (100%)
27 / 26288 total alleles (0.103%)

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 [CDS]
hgvs_c: NM_003000.2:c.170A>G
reference AA: H
variant AA: R
reference codon: cAt
variant codon: cGt
cDNA pos: 321
CDS pos: 170
translation impact: non_synonymous
protein sequence: NP_002991.2
AA pos: 57
hgvs_p: NP_002991.2:p.His57Arg
blosum: 0
SIFT: tolerated (1.0)
PolyPhen2: benign (0.0)

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

TRNAN-GUU [intron]

rs35962811
GMAF = 0.002396
TOPMED_MAF = 0.00206262742099898

EVS
EVS MAF (European American/African American/All) = 0.000000,0.008398,0.002845

ExAC African, (79 / 10404), 0.759%
gnomAD African, (198 / 24974), 0.793% curated_classification = 4