1:8421096-8421096 G > A

Classification

Category 4 curation
CMH MAF 11 / 13144 samples (0.0837%)
11 het., 0 hom. (100%)
11 / 26288 total alleles (0.0418%)

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.2471C>T
reference AA: P
variant AA: L
reference codon: cCc
variant codon: cTc
cDNA pos: 3281
CDS pos: 2471
translation impact: non_synonymous
protein sequence: NP_036234.3
AA pos: 824
hgvs_p: NP_036234.3:p.Pro824Leu
blosum: -3
PolyPhen2: unknown (0.0)

rs200831808
TOPMED_MAF = 0.00033448012232415

ExAC Non-Finnish, (2 / 1288), 0.155%
gnomAD Finnish, (98 / 4422), 2.22% curated_classification = 4