1:11907430-11907430 T > G

Classification

Category 4 curation
CMH MAF 65 / 13144 samples (0.495%)
65 het., 0 hom. (100%)
65 / 26288 total alleles (0.247%)

gene: NPPA synonym(s): ANF, ANP, ATFB6, CDD-ANF, PND, NPPA, ENSG00000175206

OMIM
OMIM:108780: NPPA (Autosomal dominant inheritance)
OMIM:612201: Atrial fibrillation, familial, 6
OMIM:615745: Atrial standstill 2

NM_006172.3 [CDS]
hgvs_c: NM_006172.3:c.190A>C
reference AA: S
variant AA: R
reference codon: Agt
variant codon: Cgt
cDNA pos: 289
CDS pos: 190
translation impact: non_synonymous
protein sequence: NP_006163.1
AA pos: 64
hgvs_p: NP_006163.1:p.Ser64Arg
blosum: -1
SIFT: tolerated (0.38)
PolyPhen2: benign (0.004)

gene: NPPA-AS1 synonym(s): NPPA-AS, NPPAAS, NPPA-AS1

NR_037806.1 [intron]
hgvs_c: NR_037806.1:n.1480-61T>G

rs61757261
GMAF = 0.000599
TOPMED_MAF = 0.00181574923547400

126847
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Atrial fibrillation

EVS
EVS MAF (European American/African American/All) = 0.002791,0.000454,0.001999

ExAC Non-Finnish, (186 / 66306), 0.281%
gnomAD Bulgarian, (19 / 2656), 0.715% curated_classification = 4