1:8526071-8526071 C > T

Classification

Category 5 curation
CMH MAF 54 / 13144 samples (0.411%)
54 het., 0 hom. (100%)
54 / 26288 total alleles (0.205%)

gene: RERE synonym(s): ARG, ARP, ATN1L, DNB1, RERE, ENSG00000142599

OMIM
OMIM:605226: RERE
OMIM:616975: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

NM_012102.3 [CDS]
hgvs_c: NM_012102.3:c.1117G>A
reference AA: G
variant AA: S
reference codon: Ggt
variant codon: Agt
cDNA pos: 1927
CDS pos: 1117
translation impact: non_synonymous
protein sequence: NP_036234.3
AA pos: 373
hgvs_p: NP_036234.3:p.Gly373Ser
blosum: 0
PolyPhen2: benign (0.03)

rs144174535
TOPMED_MAF = 0.00172018348623853

EVS
EVS MAF (European American/African American/All) = 0.001977,0.000454,0.001461

ExAC Non-Finnish, (177 / 65654), 0.27%
COSMIC Mutation ID = COSV99047775
COSMIC_MUTATION_SOMATIC_STATUS = false

gnomAD Swedish, (132 / 26072), 0.506% curated_classification = 5